From 7eec70509db55026794d6e44d5c7906b38ec67f6 Mon Sep 17 00:00:00 2001 From: naumenko-sa Date: Mon, 5 Nov 2018 14:54:10 -0500 Subject: [PATCH] modified: HISTORY.md modified: README.md modified: cre.gemini2txt.vcf2db.sh renamed: omim.inheritance.py -> cre.omim.inheritance.py modified: cre.omim.sh new file: omim.txt new file: omim_inheritance.txt --- HISTORY.md | 1 + README.md | 7 +- cre.gemini2txt.vcf2db.sh | 1 + ....inheritance.py => cre.omim.inheritance.py | 4 +- cre.omim.sh | 6 +- omim.txt | 3964 +++++++++++++++++ omim_inheritance.txt | 0 7 files changed, 3975 insertions(+), 8 deletions(-) rename omim.inheritance.py => cre.omim.inheritance.py (94%) create mode 100644 omim.txt create mode 100644 omim_inheritance.txt diff --git a/HISTORY.md b/HISTORY.md index 70cfd07..187884b 100644 --- a/HISTORY.md +++ b/HISTORY.md @@ -1,3 +1,4 @@ +- 2017-11-02: added back Gerp_score, updated OMIM - 2017-09-22: added Info_refseq and Maf_exac to the database report - 2017-09-14: improved cre.database.sh: it creates databases for cre.R - 2017-07-13: added cre.package.sh. It packages reports to send. diff --git a/README.md b/README.md index b6e434a..2ce2c44 100644 --- a/README.md +++ b/README.md @@ -19,12 +19,11 @@ Excel variant report generator and scripts to process WES data (cram/bam/fastq - ``` cd OMIM_DIR - ~/cre/omim.sh + ~/cre/cre.omim.sh ``` - It creates two tables: omim.txt with omim description of diseases related to 3700 genes, and omim_inheritance.txt with inheritance modes for genes in OMIM. - - * I recommend using improved inheritance table from [https://www.cs.toronto.edu/~buske/cheo/](https://www.cs.toronto.edu/~buske/cheo/). Download the second file with inheritance mappings. It references genes by gene name (symbol) rather than by Ensembl_id which is a requirement for CRE. Most gene names (symbols) could be mapped automatically with Ensembl biomart [genes.R](https://github.com/naumenko-sa/bioscripts/blob/master/genes.R), but some genes (not many) might need manual curation to assign the correct ENSEMBL_ID. + Result - omim.txt with omim description of diseases related to ~ 4000 genes + We use improved OMIM inheritance table from [https://www.cs.toronto.edu/~buske/cheo/](https://www.cs.toronto.edu/~buske/cheo/).Download the second file with inheritance mappings. It references genes by gene name (symbol) rather than by Ensembl_id which is a requirement for CRE. Most gene names (symbols) could be mapped automatically with Ensembl biomart [genes.R](https://github.com/naumenko-sa/bioscripts/blob/master/genes.R), but some genes (not many) might need manual curation to assign the correct ENSEMBL_ID. 5. (Optional) Install/update Orphanet. ``` diff --git a/cre.gemini2txt.vcf2db.sh b/cre.gemini2txt.vcf2db.sh index 803b017..4825f77 100755 --- a/cre.gemini2txt.vcf2db.sh +++ b/cre.gemini2txt.vcf2db.sh @@ -52,6 +52,7 @@ sQuery="select \ cadd_phred as Cadd_score,\ vest3_score as Vest3_score,\ revel_score as Revel_score,\ + gerp_score as Gerp_score,\ chrom as Chrom,\ start+1 as Pos,\ aa_change as AA_change,\ diff --git a/omim.inheritance.py b/cre.omim.inheritance.py similarity index 94% rename from omim.inheritance.py rename to cre.omim.inheritance.py index 6051117..d536577 100755 --- a/omim.inheritance.py +++ b/cre.omim.inheritance.py @@ -1,4 +1,4 @@ -#!/usr/bin/python +#!/bin/env python # extracts information about omim inheritance modes from genemap2.txt @@ -24,7 +24,7 @@ genes = {} -f1 = open(home+'/cre/ensembl_w_description.txt','r') +f1 = open(home+'/cre/data/ensembl_w_description.txt','r') for line in f1: ar = line.split('\t') genes[ar[0]] = ar[1] diff --git a/cre.omim.sh b/cre.omim.sh index a347253..daec947 100755 --- a/cre.omim.sh +++ b/cre.omim.sh @@ -6,8 +6,10 @@ cat genemap2.txt | grep -v "^#" | grep '(3)' | grep ENSG | awk -F "\t" '{print $ cat omim.tmp | awk -F "\t" 'BEGIN{prev_gene="Ensembl_gene_id\tOmim_gene_description";buf=""}{if(prev_gene != $1){print prev_gene"\t"buf;buf=$2;prev_gene=$1}else{buf=buf","$2;}}END{print prev_gene"\t"buf'} > omim.txt -omim.inheritance.py genemap2.txt > omim_inheritance.txt +#not generating omim_inheritance - needs manual curation +#cre.omim.inheritance.py genemap2.txt > omim_inheritance.txt -cp omim_inheritance.txt omim.txt ~/cre +cp omim.txt ~/cre +#cp omim_inheritance.txt omim.txt ~/cre rm omim.tmp \ No newline at end of file diff --git a/omim.txt b/omim.txt new file mode 100644 index 0000000..3cea421 --- /dev/null +++ b/omim.txt @@ -0,0 +1,3964 @@ +Ensembl_gene_id Omim_gene_description +ENSG00000000419 Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive +ENSG00000000971 Basal laminar drusen, 126700 (3), Autosomal dominant; Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, 4}, 610698 (3) +ENSG00000001084 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000001497 Wilson-Turner syndrome, 309585 (3), X-linked recessive +ENSG00000001626 {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; Cystic fibrosis, 219700 (3), Autosomal recessive; {Hypertrypsinemia, neonatal} (3); {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant; Sweat chloride elevation without CF (3) +ENSG00000001631 Cavernous malformations of CNS and retina, 116860 (3), Autosomal dominant; Cerebral cavernous malformations-1, 116860 (3), Autosomal dominant; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3), Autosomal dominant +ENSG00000002822 Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3) +ENSG00000003137 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3) +ENSG00000003393 Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive; Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive +ENSG00000003400 Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) +ENSG00000004455 Reticular dysgenesis, 267500 (3), Autosomal recessive +ENSG00000004487 Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3), Autosomal dominant +ENSG00000004838 Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive +ENSG00000004848 Epileptic encephalopathy, early infantile, 1, 308350 (3), X-linked recessive; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked; Lissencephaly, X-linked 2, 300215 (3), X-linked; Mental retardation, X-linked 29 and others, 300419 (3), X-linked recessive; Partington syndrome, 309510 (3), X-linked recessive; Proud syndrome, 300004 (3), X-linked +ENSG00000004864 Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive; Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive +ENSG00000004939 [Blood group, Diego], 110500 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); Cryohydrocytosis, 185020 (3), Autosomal dominant; [Malaria, resistance to], 611162 (3); Ovalocytosis, SA type, 166900 (3), Autosomal dominant; Renal tubular acidosis, distal, AD, 179800 (3), Autosomal dominant; Renal tubular acidosis, distal, AR, 611590 (3), Autosomal recessive; Spherocytosis, type 4, 612653 (3), Autosomal dominant +ENSG00000004948 {Osteoporosis, postmenopausal, susceptibility}, 166710 (3), Autosomal dominant +ENSG00000004961 Linear skin defects with multiple congenital anomalies 1, 309801 (3), X-linked dominant +ENSG00000005073 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3), Autosomal dominant +ENSG00000005102 Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive +ENSG00000005339 Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant +ENSG00000005381 {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; {Lung cancer, protection against, in smokers} (3); Myeloperoxidase deficiency, 254600 (3), Autosomal recessive +ENSG00000005421 {Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Microvascular complications of diabetes 5}, 612633 (3); {Organophosphate poisoning, sensitivity to} (3) +ENSG00000005471 Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive; Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant +ENSG00000005884 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive +ENSG00000005893 Danon disease, 300257 (3), X-linked dominant +ENSG00000005961 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; Thrombocytopenia, neonatal alloimmune, BAK antigen related (3) +ENSG00000006016 Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive +ENSG00000006042 Nanophthalmos 4, 615972 (3), Autosomal dominant +ENSG00000006071 Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant +ENSG00000006283 Spinocerebellar ataxia 42, 616795 (3), Autosomal dominant; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3), Autosomal dominant +ENSG00000006530 Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive; Sengers syndrome, 212350 (3), Autosomal recessive +ENSG00000006611 Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive; Usher syndrome, type 1C, 276904 (3), Autosomal recessive +ENSG00000006638 {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3), Autosomal dominant +ENSG00000006695 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000006744 Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive; {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3) +ENSG00000007062 Cone-rod dystrophy 12, 612657 (3); Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant; Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3) +ENSG00000007168 Lissencephaly 1, 607432 (3), Isolated cases; Subcortical laminar heterotopia, 607432 (3), Isolated cases +ENSG00000007171 {Hypertension, susceptibility to}, 145500 (2), Multifactorial; {Malaria, resistance to}, 611162 (3) +ENSG00000007312 Agammaglobulinemia 6, 612692 (3), Autosomal recessive +ENSG00000007314 Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Paramyotonia congenita, 168300 (3), Autosomal dominant +ENSG00000007372 Aniridia, 106210 (3), Autosomal dominant; Anterior segment dysgenesis 5, multiple subtypes, 604229 (3); Cataract with late-onset corneal dystrophy, 106210 (3), Autosomal dominant; ?Coloboma of optic nerve, 120430 (3), Autosomal dominant; ?Coloboma, ocular, 120200 (3), Autosomal dominant; Foveal hypoplasia 1, 136520 (3), Autosomal dominant; Keratitis, 148190 (3), Autosomal dominant; ?Morning glory disc anomaly, 120430 (3), Autosomal dominant; Optic nerve hypoplasia, 165550 (3), Autosomal dominant +ENSG00000007933 Trimethylaminuria, 602079 (3), Autosomal recessive +ENSG00000008056 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked recessive, X-linked dominant +ENSG00000008086 Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant +ENSG00000008196 Char syndrome, 169100 (3), Autosomal dominant; Patent ductus arteriosus 2, 617035 (3), Autosomal dominant +ENSG00000008277 ?Epileptic encephalopathy, early infantile, 61, 617933 (3), Autosomal recessive +ENSG00000008311 Hyperlysinemia, 238700 (3), Autosomal recessive; Saccharopinuria, 268700 (1), Autosomal recessive +ENSG00000008405 {Delayed sleep phase disorder, susceptibility to}, 614163 (3), Autosomal dominant +ENSG00000008441 Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Sotos syndrome 2, 614753 (3), Autosomal dominant +ENSG00000008710 Polycystic kidney disease 1, 173900 (3), Autosomal dominant +ENSG00000008853 Epileptic encephalopathy, early infantile, 64, 618004 (3), Autosomal dominant +ENSG00000009709 Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive +ENSG00000009724 MASP2 deficiency, 613791 (3), Autosomal recessive +ENSG00000009765 Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive +ENSG00000009830 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive +ENSG00000010072 Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive +ENSG00000010165 ?{Deafness, autosomal recessive 26, modifier of}, 605429 (3), Autosomal dominant +ENSG00000010292 ?Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive +ENSG00000010361 Neural tube defects, 182940 (3), Autosomal dominant +ENSG00000010404 Mucopolysaccharidosis II, 309900 (3), X-linked recessive +ENSG00000010610 OKT4 epitope deficiency, 613949 (3) +ENSG00000010671 Agammaglobulinemia and isolated hormone deficiency, 307200 (3), X-linked recessive; Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive +ENSG00000010704 {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Hemochromatosis, 235200 (3), Autosomal recessive; {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal recessive, Autosomal dominant; {Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; [Transferrin serum level QTL2], 614193 (3) +ENSG00000010818 Mental retardation, autosomal dominant 43, 616977 (3), Autosomal dominant +ENSG00000011143 Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive +ENSG00000011198 Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive +ENSG00000011201 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive +ENSG00000011275 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive +ENSG00000011295 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive +ENSG00000011376 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive; Perrault syndrome 4, 615300 (3), Autosomal recessive +ENSG00000011426 Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant +ENSG00000011465 Corneal dystrophy, congenital stromal, 610048 (3), Autosomal dominant +ENSG00000011600 Nasu-Hakola disease, 221770 (3), Autosomal recessive +ENSG00000012048 {Breast-ovarian cancer, familial, 1}, 604370 (3), Autosomal dominant, Multifactorial; Fanconi anemia, complementation group S, 617883 (3), Autosomal recessive; {Pancreatic cancer, susceptibility to, 4}, 614320 (3) +ENSG00000012061 Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive +ENSG00000012174 IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive +ENSG00000012232 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive +ENSG00000012504 Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive +ENSG00000012660 Spinocerebellar ataxia 38, 615957 (3), Autosomal dominant +ENSG00000012779 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3), Autosomal dominant; {Atherosclerosis, susceptibility to} (3) +ENSG00000013293 Retinitis pigmentosa 68, 615725 (3), Autosomal recessive +ENSG00000013375 Immunodeficiency 23, 615816 (3), Autosomal recessive +ENSG00000013503 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive +ENSG00000013573 Warsaw breakage syndrome, 613398 (3), Autosomal recessive +ENSG00000013619 Hypospadias 2, X-linked, 300758 (3), X-linked recessive +ENSG00000014216 Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive +ENSG00000014824 ?Birk-Landau-Perez syndrome, 617595 (3), Autosomal recessive +ENSG00000014919 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3), Autosomal recessive; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000015133 Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive; ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant +ENSG00000015171 Mental retardation, autosomal dominant 30, 616083 (3), Autosomal dominant +ENSG00000015285 Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive +ENSG00000015479 Amyotrophic lateral sclerosis 21, 606070 (3), Autosomal dominant +ENSG00000015520 [Ezetimibe, nonresponse to], 617966 (3); [Low density lipoprotein cholesterol level QTL 7], 617966 (3) +ENSG00000015532 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive +ENSG00000017260 Hailey-Hailey disease, 169600 (3), Autosomal dominant +ENSG00000017427 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive +ENSG00000018236 ?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive +ENSG00000018280 {Buruli ulcer, susceptibility to}, 610446 (3); {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) +ENSG00000018510 Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive +ENSG00000018610 ?Mental retardation, X-linked 107, 301013 (3), X-linked +ENSG00000018625 Alternating hemiplegia of childhood 1, 104290 (3), Autosomal dominant; Migraine, familial basilar, 602481 (3), Autosomal dominant; Migraine, familial hemiplegic, 2, 602481 (3), Autosomal dominant +ENSG00000019186 Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive +ENSG00000019549 Piebaldism, 172800 (3), Autosomal dominant; Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive +ENSG00000019991 Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive +ENSG00000020922 Ataxia-telangiectasia-like disorder 1, 604391 (3), Autosomal recessive +ENSG00000021488 Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant +ENSG00000021574 Spastic paraplegia 4, autosomal dominant, 182601 (3), Autosomal dominant +ENSG00000021826 Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3) +ENSG00000021852 C8 deficiency, type II, 613789 (3), Autosomal recessive +ENSG00000022267 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3), X-linked recessive; Myopathy, X-linked, with postural muscle atrophy, 300696 (3), X-linked recessive; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3), X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3), X-linked; Scapuloperoneal myopathy, X-linked dominant, 300695 (3), X-linked dominant; ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3), X-linked recessive +ENSG00000022355 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3); {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); Epileptic encephalopathy, early infantile, 19, 615744 (3), Autosomal dominant +ENSG00000023228 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000023287 Breast cancer, somatic, 114480 (3) +ENSG00000023839 Dubin-Johnson syndrome, 237500 (3), Autosomal recessive +ENSG00000023909 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000025708 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive +ENSG00000025796 Polycystic liver disease 2, 617004 (3), Autosomal dominant +ENSG00000026025 Cataract 30, pulverulent, 116300 (3), Autosomal dominant +ENSG00000026103 Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant; Squamous cell carcinoma, burn scar-related, somatic (3) +ENSG00000026297 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive +ENSG00000026508 [Blood group, Indian system], 609027 (3) +ENSG00000027001 Combined oxidative phosphorylation deficiency 31, 617228 (3), Autosomal recessive +ENSG00000027075 {Cerebral infarction, susceptibility to}, 601367 (3), Multifactorial +ENSG00000027697 {H. pylori infection, susceptibility to}, 600263 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3); Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3) +ENSG00000027847 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive +ENSG00000029534 Spherocytosis, type 1, 182900 (3), Autosomal dominant +ENSG00000029993 ?Microphthalmia, syndromic 13, 300915 (3), X-linked +ENSG00000030304 Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive +ENSG00000030582 Aphasia, primary progressive, 607485 (3), Autosomal dominant; Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant +ENSG00000031081 Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant +ENSG00000031698 ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3), Autosomal recessive +ENSG00000032444 Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive +ENSG00000033011 Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive +ENSG00000033170 Congenital disorder of glycosylation with defective fucosylation, 618005 (3), Autosomal recessive +ENSG00000034693 Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive +ENSG00000034971 Glaucoma 1A, primary open angle, 137750 (3), Autosomal dominant +ENSG00000035403 Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3), Autosomal dominant +ENSG00000036054 Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive +ENSG00000036257 Pseudohypoaldosteronism, type IIE, 614496 (3), Autosomal dominant +ENSG00000036473 Ornithine transcarbamylase deficiency, 311250 (3), X-linked recessive +ENSG00000036828 {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant; Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant +ENSG00000037280 Hemangioma, capillary infantile, somatic, 602089 (3); Lymphedema, hereditary, IA, 153100 (3), Autosomal dominant +ENSG00000037474 Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive +ENSG00000038002 Aspartylglucosaminuria, 208400 (3), Autosomal recessive +ENSG00000038295 Atrial septal defect 6, 613087 (3), Autosomal dominant +ENSG00000038382 Mental retardation, autosomal dominant 44, 617061 (3), Autosomal dominant +ENSG00000038427 Wagner syndrome 1, 143200 (3), Autosomal dominant +ENSG00000038945 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) +ENSG00000039068 Blepharocheilodontic syndrome 1, 119580 (3), Autosomal dominant; {Breast cancer, lobular}, 114480 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3), Autosomal dominant; Ovarian carcinoma, somatic, 167000 (3); {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant +ENSG00000039139 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) +ENSG00000039537 C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) +ENSG00000039650 Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive +ENSG00000040531 Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive +ENSG00000040608 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant +ENSG00000041982 Deafness, autosomal dominant 56, 615629 (3), Autosomal dominant +ENSG00000042088 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3) +ENSG00000042317 Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3) +ENSG00000042429 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive +ENSG00000042753 Hypocalciuric hypercalcemia, type III, 600740 (3), Autosomal dominant +ENSG00000042781 Retinitis pigmentosa 39, 613809 (3); Usher syndrome, type 2A, 276901 (3), Autosomal recessive +ENSG00000042832 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive +ENSG00000043355 Holoprosencephaly 5, 609637 (3), Autosomal dominant +ENSG00000043514 Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive +ENSG00000043591 {Congestive heart failure and beta-blocker response, modifier of} (3); [Resting heart rate], 607276 (3) +ENSG00000044090 3-M syndrome 1, 273750 (3), Autosomal recessive +ENSG00000044115 Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant +ENSG00000044446 Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive +ENSG00000046604 Arrhythmogenic right ventricular dysplasia 10, 610193 (3), Autosomal dominant; Cardiomyopathy, dilated, 1BB, 612877 (3) +ENSG00000046651 Joubert syndrome 10, 300804 (3), X-linked recessive; Orofaciodigital syndrome I, 311200 (3), X-linked dominant; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive +ENSG00000047457 Cerebellar ataxia, 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive; [Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive +ENSG00000047578 Joubert syndrome 26, 616784 (3), Autosomal recessive +ENSG00000047579 Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive +ENSG00000047597 McLeod syndrome with or without chronic granulomatous disease, 300842 (3), X-linked +ENSG00000048342 COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive; Meckel syndrome 6, 612284 (3), Autosomal recessive +ENSG00000048392 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant +ENSG00000048545 Cone dystrophy-3, 602093 (3), Autosomal dominant; Cone-rod dystrophy 14, 602093 (3), Autosomal dominant +ENSG00000048707 Spinocerebellar ataxia, autosomal recessive 4, 607317 (3), Autosomal recessive +ENSG00000049089 Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant; ?Stickler syndrome, type V, 614284 (3), Autosomal recessive +ENSG00000049130 Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3), Autosomal dominant; Hyperpigmentation with or without hypopigmentation, 145250 (3), Autosomal dominant; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) +ENSG00000049167 Cockayne syndrome, type A, 216400 (3), Autosomal recessive; UV-sensitive syndrome 2, 614621 (3), Autosomal recessive +ENSG00000049239 Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive +ENSG00000049246 ?Advanced sleep phase syndrome, familial, 3, 616882 (3), Autosomal dominant +ENSG00000049540 Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant; Supravalvar aortic stenosis, 185500 (3), Autosomal dominant +ENSG00000049618 Coffin-Siris syndrome 1, 135900 (3), Autosomal dominant +ENSG00000049759 Periventricular nodular heterotopia 7, 617201 (3), Autosomal dominant +ENSG00000049768 {Diabetes mellitus, type I, susceptibility to}, 222100 (3), Autosomal recessive; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive +ENSG00000049860 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive +ENSG00000050030 Mental retardation, X-linked 98, 300912 (3), X-linked dominant +ENSG00000050405 [Low density lipoprotein cholesterol level QTL 8], 618079 (3) +ENSG00000050555 Cortical malformations, occipital, 614115 (3), Autosomal recessive +ENSG00000051180 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; ?Fanconi anemia, complementation group R, 617244 (3), Autosomal dominant; Mirror movements 2, 614508 (3), Autosomal dominant +ENSG00000051523 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3), Autosomal recessive +ENSG00000052802 Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive +ENSG00000052850 {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant; Frontonasal dysplasia 2, 613451 (3), Autosomal recessive; Parietal foramina 2, 609597 (3), Autosomal dominant +ENSG00000053747 Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive +ENSG00000053918 Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive; Long QT syndrome 1, 192500 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Short QT syndrome 2, 609621 (3), Autosomal dominant +ENSG00000054282 Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive; Senior-Loken syndrome 7, 613615 (3) +ENSG00000054523 ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Autosomal dominant, Isolated cases; Pheochromocytoma, 171300 (3), Autosomal dominant +ENSG00000054598 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant +ENSG00000054654 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3), Autosomal dominant +ENSG00000054983 Krabbe disease, 245200 (3), Autosomal recessive +ENSG00000055118 Long QT syndrome 2, 613688 (3), Autosomal dominant; {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3), Autosomal dominant; Short QT syndrome 1, 609620 (3) +ENSG00000055163 Epileptic encephalopathy, early infantile, 65, 618008 (3), Autosomal dominant +ENSG00000055208 Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal dominant +ENSG00000055609 Kleefstra syndrome 2, 617768 (3), Autosomal dominant +ENSG00000055955 {Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant +ENSG00000056972 ?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3) +ENSG00000057294 Arrhythmogenic right ventricular dysplasia 9, 609040 (3), Autosomal dominant +ENSG00000057593 Factor VII deficiency, 227500 (3), Autosomal recessive; {Myocardial infarction, decreased susceptibility to}, 608446 (3) +ENSG00000057663 ?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3), Autosomal recessive +ENSG00000058085 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive +ENSG00000058262 Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3), Autosomal dominant +ENSG00000058404 Mental retardation, autosomal dominant 54, 617799 (3), Autosomal dominant +ENSG00000059377 Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive; ?Thromboxane synthase deficiency, 614158 (1), Autosomal dominant +ENSG00000059573 Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive, Isolated cases; Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive +ENSG00000060069 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive +ENSG00000060237 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant +ENSG00000060642 Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive +ENSG00000060718 Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; {Lumbar disc herniation, susceptibility to}, 603932 (3); Marshall syndrome, 154780 (3), Autosomal dominant; Stickler syndrome, type II, 604841 (3), Autosomal dominant +ENSG00000060762 Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive +ENSG00000061337 Esophageal squamous cell carcinoma, 133239 (3), Autosomal dominant +ENSG00000061455 Patent ductus arteriosus 3, 617039 (3), Autosomal dominant +ENSG00000062038 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive +ENSG00000062598 Vascular malformation, primary intraosseous, 606893 (3), Autosomal recessive +ENSG00000062822 {Colorectal cancer, susceptibility to, 10}, 612591 (3), Autosomal dominant; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3), Autosomal dominant +ENSG00000064012 ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; {Breast cancer, protection against}, 114480 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); {Lung cancer, protection against}, 211980 (3), Autosomal recessive +ENSG00000064195 Amelogenesis imperfecta, type IV, 104510 (3), Autosomal dominant; Trichodontoosseous syndrome, 190320 (3), Autosomal dominant +ENSG00000064309 Holoprosencephaly 11, 614226 (3), Autosomal dominant, Isolated cases +ENSG00000064313 Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive +ENSG00000064419 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3), Autosomal dominant +ENSG00000064490 MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive +ENSG00000064601 Galactosialidosis, 256540 (3), Autosomal recessive +ENSG00000064687 {Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant +ENSG00000064835 Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal recessive, Autosomal dominant +ENSG00000065000 ?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive +ENSG00000065057 Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive +ENSG00000065135 Auriculocondylar syndrome 1, 602483 (3), Autosomal dominant +ENSG00000065154 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive +ENSG00000065361 ?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive +ENSG00000065427 ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3), Autosomal recessive; Deafness, autosomal recessive 89, 613916 (3), Autosomal recessive +ENSG00000065534 Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant +ENSG00000065618 Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant +ENSG00000065883 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant +ENSG00000066084 Mental retardation, FRA12A type, 136630 (3), Autosomal dominant +ENSG00000066230 Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive +ENSG00000066279 Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive +ENSG00000066427 Machado-Joseph disease, 109150 (3), Autosomal dominant +ENSG00000066468 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal dominant; Apert syndrome, 101200 (3), Autosomal dominant; Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Bent bone dysplasia syndrome, 614592 (3), Autosomal dominant; Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3); Crouzon syndrome, 123500 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger anomaly (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3) +ENSG00000066629 Band heterotopia, 600348 (3), Autosomal recessive +ENSG00000066827 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) +ENSG00000066923 Premature ovarian failure 8, 615723 (3), Autosomal recessive +ENSG00000066926 Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive +ENSG00000067082 Gastric cancer, somatic, 613659 (3); Prostate cancer, somatic, 176807 (3) +ENSG00000067177 Muscle glycogenosis, 300559 (3), X-linked recessive +ENSG00000067182 {Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial, 142680 (3), Autosomal dominant +ENSG00000067704 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive +ENSG00000067836 Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive +ENSG00000067842 ?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive +ENSG00000067992 ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3), X-linked dominant +ENSG00000068078 Achondroplasia, 100800 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); SADDAN, 616482 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant +ENSG00000068120 Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive +ENSG00000068305 {Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant +ENSG00000068323 Renal cell carcinoma, papillary, 1, 300854 (3) +ENSG00000068366 Mental retardation, X-linked 63, 300387 (3), X-linked dominant +ENSG00000068438 Mental retardation, X-linked 9/44, 309549 (3), X-linked recessive +ENSG00000068615 ?Neuronopathy, distal hereditary motor, type VB, 614751 (3), Autosomal dominant; Spastic paraplegia 31, autosomal dominant, 610250 (3), Autosomal dominant +ENSG00000068654 Acrofacial dysostosis, Cincinnati type, 616462 (3), Autosomal dominant +ENSG00000068724 Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive +ENSG00000068796 Cortical dysplasia, complex, with other brain malformations 3, 615411 (3), Autosomal dominant +ENSG00000068831 ?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive +ENSG00000068885 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive +ENSG00000068976 McArdle disease, 232600 (3), Autosomal recessive +ENSG00000069011 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3), Autosomal dominant; Liebenberg syndrome, 186550 (4), Autosomal dominant +ENSG00000069329 {Parkinson disease 17}, 614203 (3), Autosomal dominant +ENSG00000069431 Atrial fibrillation, familial, 12, 614050 (3), Autosomal dominant; Cardiomyopathy, dilated, 1O, 608569 (3); Hypertrichotic osteochondrodysplasia, 239850 (3), Autosomal dominant +ENSG00000069482 ?Epilepsy, familial temporal lobe, 8, 616461 (3), Autosomal dominant +ENSG00000069667 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3), Autosomal dominant +ENSG00000069696 {Attention deficit-hyperactivity disorder}, 143465 (3), Autosomal dominant; Autonomic nervous system dysfunction (3); [Novelty seeking personality], 601696 (1), ?Autosomal dominant +ENSG00000069966 Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive +ENSG00000069974 Griscelli syndrome, type 2, 607624 (3), Autosomal recessive +ENSG00000070018 {Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant +ENSG00000070019 Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive +ENSG00000070061 Dysautonomia, familial, 223900 (3), Autosomal recessive +ENSG00000070182 Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3); Elliptocytosis-3, 617948 (3); Spherocytosis, type 2, 616649 (3), Autosomal dominant +ENSG00000070193 Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant +ENSG00000070269 Structural heart defects and renal anomalies syndrome, 617478 (3), Autosomal recessive +ENSG00000070610 Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive +ENSG00000070614 Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive +ENSG00000070669 Asparagine synthetase deficiency, 615574 (3), Autosomal recessive +ENSG00000070729 Retinitis pigmentosa 45, 613767 (3), Autosomal recessive +ENSG00000070748 Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive +ENSG00000070785 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive +ENSG00000070808 Mental retardation, autosomal dominant 53, 617798 (3), Autosomal dominant; ?Mental retardation, autosomal recessive 63, 618095 (3), Autosomal recessive +ENSG00000070814 Treacher Collins syndrome 1, 154500 (3), Autosomal dominant +ENSG00000070831 Takenouchi-Kosaki syndrome, 616737 (3), Autosomal dominant +ENSG00000070915 Gitelman syndrome, 263800 (3), Autosomal recessive +ENSG00000071539 Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive +ENSG00000071553 Immunodeficiency 47, 300972 (3), X-linked recessive +ENSG00000071564 Agammaglobulinemia 8, autosomal dominant, 616941 (3), Autosomal dominant +ENSG00000072042 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive +ENSG00000072062 Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3) +ENSG00000072110 Bleeding disorder, platelet-type, 15, 615193 (3), Autosomal dominant +ENSG00000072121 Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive +ENSG00000072163 ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive +ENSG00000072195 Centronuclear myopathy 5, 615959 (3), Autosomal recessive +ENSG00000072210 Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive +ENSG00000072274 Immunodeficiency 46, 616740 (3), Autosomal recessive +ENSG00000072364 CHOPS syndrome, 616368 (3), Autosomal dominant +ENSG00000072501 Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant +ENSG00000072506 HSD10 mitochondrial disease, 300438 (3), X-linked dominant +ENSG00000072571 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant +ENSG00000072682 Myopia 25, autosomal dominant, 617238 (3), Autosomal dominant +ENSG00000072694 {Malaria, resistance to}, 611162 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant +ENSG00000072756 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive +ENSG00000072778 VLCAD deficiency, 201475 (3), Autosomal recessive +ENSG00000072840 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant +ENSG00000072864 Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive +ENSG00000073050 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive +ENSG00000073060 [High density lipoprotein cholesterol level QTL6], 610762 (3) +ENSG00000073111 ?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant +ENSG00000073282 ADULT syndrome, 103285 (3), Autosomal dominant; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3), Autosomal dominant; Hay-Wells syndrome, 106260 (3), Autosomal dominant; Limb-mammary syndrome, 603543 (3), Autosomal dominant; Orofacial cleft 8, 618149 (3); Rapp-Hodgkin syndrome, 129400 (3), Autosomal dominant; Split-hand/foot malformation 4, 605289 (3), Autosomal dominant +ENSG00000073464 Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive +ENSG00000073578 Cardiomyopathy, dilated, 1GG, 613642 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial respiratory chain complex II deficiency, 252011 (3), Autosomal recessive; Paragangliomas 5, 614165 (3), Autosomal dominant +ENSG00000073584 Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant +ENSG00000073734 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive +ENSG00000073792 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000073861 Asthma and nasal polyps, 208550 (3), Autosomal recessive; {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive +ENSG00000073921 Leukemia, acute myeloid, somatic, 601626 (3) +ENSG00000074047 Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant +ENSG00000074071 Combined oxidative phosphorylation deficiency 32, 617664 (3), Autosomal recessive +ENSG00000074181 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant; Lateral meningocele syndrome, 130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant +ENSG00000074266 Cohen-Gibson syndrome, 617561 (3), Autosomal dominant +ENSG00000074317 Dementia, Lewy body, 127750 (3), Autosomal dominant +ENSG00000074410 Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive +ENSG00000074582 Bjornstad syndrome, 262000 (3), Autosomal recessive; GRACILE syndrome, 603358 (3); Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive +ENSG00000074621 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive +ENSG00000074695 Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive +ENSG00000074803 Bartter syndrome, type 1, 601678 (3), Autosomal recessive +ENSG00000075043 Epileptic encephalopathy, early infantile, 7, 613720 (3), Autosomal dominant; Myokymia, 121200 (3), Autosomal dominant; Seizures, benign neonatal, 1, 121200 (3), Autosomal dominant +ENSG00000075213 {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3), Autosomal dominant +ENSG00000075239 Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive +ENSG00000075415 Mitochondrial phosphate carrier deficiency, 610773 (3) +ENSG00000075624 Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant; ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant +ENSG00000075643 Xanthinuria, type II, 603592 (3), Autosomal recessive +ENSG00000075651 Cardiac valvular defect, developmental, 212093 (3), Autosomal recessive +ENSG00000075702 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive +ENSG00000075785 Charcot-Marie-Tooth disease, type 2B, 600882 (3), Autosomal dominant +ENSG00000075886 Keratoconus 9, 617928 (3), Autosomal dominant +ENSG00000075891 Glomerulosclerosis, focal segmental, 7, 616002 (3), Autosomal dominant; Papillorenal syndrome, 120330 (3), Autosomal dominant +ENSG00000076003 Lactase persistence/nonpersistence, 223100 (3), Autosomal dominant +ENSG00000076242 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant +ENSG00000076248 Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive +ENSG00000076351 Folate malabsorption, hereditary, 229050 (3), Autosomal recessive +ENSG00000076685 Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive +ENSG00000076944 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) +ENSG00000077092 Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant +ENSG00000077150 Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant +ENSG00000077152 Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive +ENSG00000077238 {AIDS, slow progression to}, 609423 (3); {Atopy, susceptibility to}, 147050 (3), Autosomal dominant +ENSG00000077264 Mental retardation, X-linked 30/47, 300558 (3), X-linked recessive +ENSG00000077279 Lissencephaly, X-linked, 300067 (3), X-linked; Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked +ENSG00000077498 Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive; Albinism, oculocutaneous, type IB, 606952 (3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3); Waardenburg syndrome/albinism, digenic, 103470 (3), Autosomal dominant +ENSG00000077522 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant +ENSG00000077721 Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3), X-linked recessive +ENSG00000077782 Encephalocraniocutaneous lipomatosis, 613001 (3), Somatic mosaicism; Hartsfield syndrome, 615465 (3), Autosomal dominant; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Trigonocephaly 1, 190440 (3), Autosomal dominant +ENSG00000077943 Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive +ENSG00000078070 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive +ENSG00000078124 ?Leukodystrophy, progressive, early childhood-onset, 617762 (3), Autosomal recessive +ENSG00000078369 Leukemia, acute lymphoblastic, somatic, 613065 (3); Mental retardation, autosomal dominant 42, 616973 (3), Autosomal dominant +ENSG00000078401 Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive; {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant +ENSG00000078403 Leukemia, acute myeloid, 601626 (3), Autosomal dominant +ENSG00000078579 ?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive +ENSG00000078747 Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive +ENSG00000079215 Episodic ataxia, type 6, 612656 (3), Autosomal dominant +ENSG00000079335 Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive +ENSG00000079432 Mental retardation, autosomal dominant 45, 617600 (3), Autosomal dominant +ENSG00000079435 Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive +ENSG00000079459 Squalene synthase deficiency, 618156 (3) +ENSG00000079482 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3), X-linked recessive +ENSG00000079616 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3), Autosomal dominant +ENSG00000079739 Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive +ENSG00000079805 Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant; Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive +ENSG00000079841 Cone-rod dystrophy 7, 603649 (3) +ENSG00000080493 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive +ENSG00000080503 Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant +ENSG00000080561 ?Mental retardation, X-linked 101, 300928 (3), X-linked recessive +ENSG00000080572 Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive +ENSG00000080603 Floating-Harbor syndrome, 136140 (3), Autosomal dominant +ENSG00000080644 {Lung cancer susceptibility 2}, 612052 (3) +ENSG00000080815 ?Acne inversa, familial, 3, 613737 (3), Autosomal dominant; Alzheimer disease, type 3, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3), Autosomal dominant; Cardiomyopathy, dilated, 1U, 613694 (3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; Pick disease, 172700 (3), Autosomal dominant, Isolated cases +ENSG00000080819 Coproporphyria, 121300 (3), Autosomal dominant; Harderoporphyria, 121300 (3), Autosomal dominant +ENSG00000081014 Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive; Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant +ENSG00000081051 Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive; [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant +ENSG00000081052 Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign (3) +ENSG00000081087 Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive +ENSG00000081148 Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant; Retinitis pigmentosa 56, 613581 (3), Autosomal recessive +ENSG00000081189 Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal dominant; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3), Autosomal dominant +ENSG00000081237 {Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive +ENSG00000081248 Hypokalemic periodic paralysis, type 1, 170400 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 5}, 601887 (3), Autosomal dominant; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3), Isolated cases +ENSG00000081277 Ectodermal dysplasia/skin fragility syndrome, 604536 (3) +ENSG00000081307 Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3), Autosomal recessive +ENSG00000081479 Donnai-Barrow syndrome, 222448 (3), Autosomal recessive +ENSG00000081923 Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive +ENSG00000082074 Thrombocytopenia 3, 273900 (3), Autosomal recessive +ENSG00000082458 Mental retardation, X-linked 90, 300850 (3), X-linked recessive +ENSG00000083093 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group N, 610832 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3) +ENSG00000083123 Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive +ENSG00000083168 Mental retardation, autosomal dominant 32, 616268 (3), Autosomal dominant +ENSG00000083307 Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant; Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive +ENSG00000083444 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive +ENSG00000083535 Joubert syndrome 33, 617767 (3), Autosomal recessive +ENSG00000083720 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3) +ENSG00000083799 Brooke-Spiegler syndrome, 605041 (3), Autosomal dominant; Cylindromatosis, familial, 132700 (3), Autosomal dominant; Trichoepithelioma, multiple familial, 1, 601606 (3), Autosomal dominant +ENSG00000083937 Amyotrophic lateral sclerosis 17, 614696 (3), Autosomal dominant; Dementia, familial, nonspecific, 600795 (3), Autosomal dominant +ENSG00000084073 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive +ENSG00000084093 Fibromatosis, gingival, 5, 617626 (3), Autosomal dominant; {Wilms tumor 6, susceptibility to}, 616806 (3) +ENSG00000084110 [Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant +ENSG00000084674 Hypercholesterolemia, due to ligand-defective apo B, 144010 (3), Autosomal dominant; Hypobetalipoproteinemia, 615558 (3), Autosomal recessive +ENSG00000084693 Retinitis pigmentosa 75, 617023 (3), Autosomal recessive +ENSG00000084734 [Fasting plasma glucose level QTL 5], 613463 (3) +ENSG00000084754 Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive; HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; LCHAD deficiency, 609016 (3), Autosomal recessive; Trifunctional protein deficiency, 609015 (3), Autosomal recessive +ENSG00000084774 Epileptic encephalopathy, early infantile, 50, 616457 (3), Autosomal recessive +ENSG00000085063 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive +ENSG00000085224 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive +ENSG00000085276 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3), Autosomal dominant +ENSG00000085382 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive +ENSG00000085491 Fontaine progeroid syndrome, 612289 (3), Autosomal dominant +ENSG00000085563 {Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3) +ENSG00000085788 Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive +ENSG00000085840 Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive +ENSG00000085978 {Inflammatory bowel disease (Crohn disease) 10}, 611081 (3) +ENSG00000085998 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive +ENSG00000085999 Adenocarcinoma, colonic, somatic (3); {Breast cancer, invasive ductal}, 114480 (3), Autosomal dominant; Lymphoma, non-Hodgkin, somatic, 605027 (3) +ENSG00000086062 Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive +ENSG00000086288 Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive +ENSG00000086300 Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive +ENSG00000086544 {Kawasaki disease, susceptibility to}, 611775 (3) +ENSG00000086570 Spinocerebellar ataxia 45, 617769 (3), Autosomal dominant +ENSG00000086758 Mental retardation, X-linked syndromic, Turner type, 300706 (3) +ENSG00000086848 Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive; Gillessen-Kaesbach-Nishimura syndrome, 263210 (3), Autosomal recessive +ENSG00000087053 Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive +ENSG00000087085 [Blood group, Yt system], 112100 (3) +ENSG00000087086 Hyperferritinemia-cataract syndrome, 600886 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant +ENSG00000087088 Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3) +ENSG00000087111 Glycosylphosphatidylinositol biosynthesis defect 18, 618143 (3), Autosomal recessive +ENSG00000087116 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive +ENSG00000087237 [High density lipoprotein cholesterol level QTL 10], 143470 (3), Autosomal dominant; Hyperalphalipoproteinemia, 143470 (3), Autosomal dominant +ENSG00000087245 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive +ENSG00000087258 Epileptic encephalopathy, early infantile, 17, 615473 (3), Autosomal dominant; Neurodevelopmental disorder with involuntary movements, 617493 (3), Autosomal dominant +ENSG00000087266 Cherubism, 118400 (3), Autosomal dominant +ENSG00000087274 {Hypertension, essential, salt-sensitive}, 145500 (3), Multifactorial +ENSG00000087299 L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive +ENSG00000087460 ACTH-independent macronodular adrenal hyperplasia, 219080 (3), Isolated cases; McCune-Albright syndrome, somatic, mosaic, 174800 (3); Osseous heteroplasia, progressive, 166350 (3), Autosomal dominant; Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudohypoparathyroidism Ia, 103580 (3), Autosomal dominant; Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant; Pseudohypoparathyroidism Ic, 612462 (3), Autosomal dominant; Pseudopseudohypoparathyroidism, 612463 (3), Autosomal dominant +ENSG00000087470 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant; Optic atrophy 5, 610708 (3), Autosomal dominant +ENSG00000087494 Brachydactyly, type E2, 613382 (3), Autosomal dominant +ENSG00000087586 {Colon cancer, susceptibility to}, 114500 (3), Autosomal dominant +ENSG00000088002 Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive +ENSG00000088035 Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive +ENSG00000088053 Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive +ENSG00000088256 Hypocalcemia, autosomal dominant 2, 615361 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type II, 145981 (3), Autosomal dominant +ENSG00000088305 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive +ENSG00000088367 ?Mental retardation, autosomal dominant 11, 614257 (3) +ENSG00000088451 Catel-Manzke syndrome, 616145 (3), Autosomal recessive +ENSG00000088682 Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive +ENSG00000088836 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive; Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive +ENSG00000088926 Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3) +ENSG00000088970 Retinitis pigmentosa 69, 615780 (3), Autosomal recessive +ENSG00000089225 Holt-Oram syndrome, 142900 (3), Autosomal dominant +ENSG00000089280 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Essential tremor, hereditary, 4, 614782 (3), Autosomal dominant +ENSG00000089289 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3), X-linked recessive +ENSG00000089597 Polycystic kidney disease 3, 600666 (3), Autosomal dominant +ENSG00000089818 ?Epileptic encephalopathy, early infantile, 21, 615833 (3), Autosomal recessive +ENSG00000090006 Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive +ENSG00000090020 ?Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive +ENSG00000090054 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3), Autosomal dominant +ENSG00000090061 ?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3), Autosomal dominant +ENSG00000090339 {Malaria, cerebral, susceptibility to}, 611162 (3) +ENSG00000090376 {Asthma susceptibility 5}, 611064 (3) +ENSG00000090382 Amyloidosis, renal, 105200 (3), Autosomal dominant +ENSG00000090402 Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive +ENSG00000090487 Mast syndrome, 248900 (3), Autosomal recessive +ENSG00000090520 Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3), Autosomal dominant +ENSG00000090530 Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive +ENSG00000090534 Thrombocythemia 1, 187950 (3), Autosomal dominant +ENSG00000090581 Mucolipidosis III gamma, 252605 (3), Autosomal recessive +ENSG00000090659 {Dengue fever, protection against}, 614371 (3); {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) +ENSG00000090674 Mucolipidosis IV, 252650 (3), Autosomal recessive +ENSG00000090776 Craniofrontonasal dysplasia, 304110 (3), X-linked dominant +ENSG00000090861 Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 29, 616339 (3), Autosomal recessive +ENSG00000090889 ?Mental retardation, X-linked 100, 300923 (3), X-linked recessive +ENSG00000090905 ?Epilepsy, familial adult myoclonic, 6, 618074 (3) +ENSG00000090924 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3), Autosomal recessive +ENSG00000090932 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive +ENSG00000091010 Deafness, autosomal dominant 15, 602459 (3), Autosomal dominant +ENSG00000091106 Autoinflammation with infantile enterocolitis, 616050 (3), Autosomal dominant; ?Familial cold autoinflammatory syndrome 4, 616115 (3), Autosomal dominant +ENSG00000091136 Lissencephaly 5, 615191 (3), Autosomal recessive +ENSG00000091137 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive +ENSG00000091138 Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive +ENSG00000091140 Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive +ENSG00000091262 Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive; Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant +ENSG00000091409 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive +ENSG00000091436 Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3), Autosomal recessive; Split-foot malformation with mesoaxial polydactyly, 616890 (3), Autosomal recessive +ENSG00000091482 Deafness, X-linked 4, 300066 (3), X-linked dominant +ENSG00000091483 Fumarase deficiency, 606812 (3), Autosomal recessive; Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant +ENSG00000091513 Atransferrinemia, 209300 (3), Autosomal recessive +ENSG00000091536 Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive +ENSG00000091592 Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) +ENSG00000091622 Cone-rod dystrophy 5, 600977 (3), Autosomal dominant +ENSG00000091651 Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive +ENSG00000091831 {Atherosclerosis, susceptibility to} (3); {Breast cancer}, 114480 (1), Autosomal dominant; Estrogen resistance, 615363 (3), Autosomal recessive; {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant; {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000092054 Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Autosomal dominant; Laing distal myopathy, 160500 (3), Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant +ENSG00000092067 Specific granule deficiency, 245480 (3), Autosomal recessive +ENSG00000092094 Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive +ENSG00000092200 Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3) +ENSG00000092295 Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive +ENSG00000092330 Dyskeratosis congenita, autosomal dominant 3, 613990 (3), Autosomal dominant; Revesz syndrome, 268130 (3), Autosomal dominant +ENSG00000092345 {Spermatogenic failure, susceptibility to} (3) +ENSG00000092439 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant +ENSG00000092529 Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive +ENSG00000092607 Cousin syndrome, 260660 (3), Autosomal recessive +ENSG00000092621 Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive +ENSG00000092758 Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3), Autosomal dominant; {Intervertebral disc disease, susceptibility to}, 603932 (3) +ENSG00000092929 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) +ENSG00000092969 Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant +ENSG00000093009 Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive +ENSG00000093010 {Panic disorder, susceptibility to}, 167870 (3), ?Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant +ENSG00000093072 Polyarteritis nodosa, childhood-onset, 615688 (3), Autosomal recessive; ?Sneddon syndrome, 182410 (3), Autosomal recessive +ENSG00000094631 ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3), X-linked dominant +ENSG00000094804 ?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive +ENSG00000094914 Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive +ENSG00000095002 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant; Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant +ENSG00000095015 46XY sex reversal 6, 613762 (3), Autosomal dominant +ENSG00000095139 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3), Autosomal dominant +ENSG00000095209 Osteogenesis imperfecta, type XIV, 615066 (3) +ENSG00000095321 ?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive +ENSG00000095380 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive +ENSG00000095397 Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive +ENSG00000095464 Cone dystrophy 4, 613093 (3), Autosomal recessive +ENSG00000095485 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive +ENSG00000095585 ?Agammaglobulinemia 4, 613502 (3), Autosomal recessive +ENSG00000095777 Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive +ENSG00000095787 Desanto-Shinawi syndrome, 616708 (3), Autosomal dominant +ENSG00000095970 Nasu-Hakola disease, 221770 (3), Autosomal recessive +ENSG00000096060 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) +ENSG00000096093 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3), Autosomal dominant; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3), Autosomal dominant +ENSG00000096696 Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive +ENSG00000096872 ?Bardet-Biedl syndrome 20, 617119 (3), Autosomal recessive +ENSG00000096968 {Budd-Chiari syndrome, somatic}, 600880 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); Myelofibrosis, somatic, 254450 (3); Polycythemia vera, somatic, 263300 (3); Thrombocythemia 3, 614521 (3), Autosomal dominant, Somatic mutation +ENSG00000096996 Immunodeficiency 30, 614891 (3), Autosomal recessive +ENSG00000097007 Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant; Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3) +ENSG00000099246 Warburg micro syndrome 3, 614222 (3), Autosomal recessive +ENSG00000099331 {Celiac disease, susceptibility to, 4}, 609753 (3) +ENSG00000099365 Generalized epilepsy with febrile seizures plus, type 9, 616172 (3), Autosomal dominant +ENSG00000099377 Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive +ENSG00000099624 Mitochondrial complex V (ATP synthase) deficiency, 618120 (3), Autosomal recessive +ENSG00000099769 Acid-labile subunit, deficiency of, 615961 (3) +ENSG00000099797 Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive +ENSG00000099810 Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3), Autosomal dominant +ENSG00000099937 Thrombophilia due to heparin cofactor II deficiency, 612356 (3), Autosomal dominant +ENSG00000099940 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive +ENSG00000099949 Noonan syndrome 10, 616564 (3), Autosomal dominant; {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant +ENSG00000099956 Coffin-Siris syndrome 3, 614608 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 1}, 609322 (3), Autosomal dominant; Rhabdoid tumors, somatic, 609322 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3), Autosomal dominant +ENSG00000100014 ?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant; Opitz GBBB syndrome, type II, 145410 (3), Autosomal dominant +ENSG00000100024 Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive +ENSG00000100031 ?Glutathioninuria, 231950 (3), Autosomal recessive +ENSG00000100033 Hyperprolinemia, type I, 239500 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant +ENSG00000100053 Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant +ENSG00000100075 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive +ENSG00000100079 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000100099 Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive +ENSG00000100106 Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive +ENSG00000100122 Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant +ENSG00000100146 PCWH syndrome, 609136 (3), Autosomal dominant; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3), Autosomal dominant; Waardenburg syndrome, type 4C, 613266 (3), Autosomal dominant +ENSG00000100150 Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant +ENSG00000100170 Glucose/galactose malabsorption, 606824 (3), Autosomal recessive +ENSG00000100197 {Codeine sensitivity}, 608902 (3), Autosomal recessive; {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive +ENSG00000100219 {Major affective disorder-7, susceptibility to}, 612371 (3) +ENSG00000100225 Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive +ENSG00000100234 Sorsby fundus dystrophy, 136900 (3), Autosomal dominant +ENSG00000100241 Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive +ENSG00000100243 Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive +ENSG00000100246 ?Mirror movements 3, 616059 (3), Autosomal recessive +ENSG00000100285 ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant +ENSG00000100288 Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive +ENSG00000100292 Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) +ENSG00000100297 ?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive +ENSG00000100299 Metachromatic leukodystrophy, 250100 (3), Autosomal recessive +ENSG00000100311 Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant; Dermatofibrosarcoma protuberans, 607907 (3); Meningioma, SIS-related, 607174 (3), Autosomal dominant +ENSG00000100342 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3); {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) +ENSG00000100345 Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3), Autosomal dominant +ENSG00000100348 ?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive +ENSG00000100360 ?Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive +ENSG00000100365 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3), Autosomal recessive +ENSG00000100368 Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive +ENSG00000100379 Dystonia 26, myoclonic, 616398 (3), Autosomal dominant +ENSG00000100393 Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant +ENSG00000100412 Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive +ENSG00000100416 {Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial; Liver failure, transient infantile, 613070 (3), Autosomal recessive +ENSG00000100427 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive +ENSG00000100473 Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant; ?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive +ENSG00000100478 Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive +ENSG00000100485 Noonan syndrome 9, 616559 (3), Autosomal dominant +ENSG00000100503 ?Seckel syndrome 7, 614851 (3), Autosomal recessive +ENSG00000100504 Glycogen storage disease VI, 232700 (3), Autosomal recessive +ENSG00000100523 Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive +ENSG00000100564 Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3), Autosomal recessive +ENSG00000100577 [Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive +ENSG00000100578 Joubert syndrome 23, 616490 (3), Autosomal recessive; Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive +ENSG00000100596 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3), Autosomal dominant +ENSG00000100697 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3), Autosomal dominant; Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Rhabdomyosarcoma, embryonal, 2, 180295 (3) +ENSG00000100714 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive +ENSG00000100722 Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive +ENSG00000100726 You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive +ENSG00000100749 Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive +ENSG00000100811 Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant +ENSG00000100815 Achondrogenesis, type IA, 200600 (3), Autosomal recessive +ENSG00000100836 Oculopharyngeal muscular dystrophy, 164300 (3), Autosomal dominant +ENSG00000100888 {Autism, susceptibility to, 18}, 615032 (3), Autosomal dominant +ENSG00000100902 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000100906 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3), Autosomal dominant +ENSG00000100934 Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive +ENSG00000100979 [High density lipoprotein cholesterol level QTL 9] (3) +ENSG00000100983 Glutathione synthetase deficiency, 266130 (3), Autosomal recessive; Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive +ENSG00000100985 Metaphyseal anadysplasia 2, 613073 (3) +ENSG00000100987 ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3); Keratoconus 1, 148300 (3), Autosomal dominant +ENSG00000100997 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive +ENSG00000101003 Immunodeficiency 55, 617827 (3), Autosomal recessive +ENSG00000101017 Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive +ENSG00000101052 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3), Autosomal recessive +ENSG00000101076 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; MODY, type I, 125850 (3), Autosomal dominant +ENSG00000101109 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) +ENSG00000101115 Duane-radial ray syndrome, 607323 (3), Autosomal dominant; IVIC syndrome, 147750 (3), Autosomal dominant +ENSG00000101126 Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant +ENSG00000101152 Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3), Autosomal dominant +ENSG00000101161 Retinitis pigmentosa 60, 613983 (3), Autosomal dominant +ENSG00000101162 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3), Autosomal dominant +ENSG00000101194 Porokeratosis 8, disseminated superficial actinic type, 616063 (3), Autosomal dominant +ENSG00000101200 Diabetes insipidus, neurohypophyseal, 125700 (3), Autosomal dominant +ENSG00000101204 Epilepsy, nocturnal frontal lobe, 1, 600513 (3), Autosomal dominant; {Nicotine addiction, susceptibility to}, 188890 (3) +ENSG00000101210 Epileptic encephalopathy, early infantile, 33, 616409 (3), Autosomal dominant; Mental retardation, autosomal dominant 38, 616393 (3), Autosomal dominant +ENSG00000101247 Mitochondrial complex 1 deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000101266 Okur-Chung neurodevelopmental syndrome, 617062 (3), Autosomal dominant +ENSG00000101276 Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive; ?Fazio-Londe disease, 211500 (3), Autosomal recessive +ENSG00000101282 Anonychia congenita, 206800 (3), Autosomal recessive +ENSG00000101292 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3), Autosomal dominant +ENSG00000101306 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3), Autosomal dominant +ENSG00000101310 ?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive +ENSG00000101311 Kindler syndrome, 173650 (3), Autosomal recessive +ENSG00000101327 Spinocerebellar ataxia 23, 610245 (3), Autosomal dominant +ENSG00000101333 Auriculocondylar syndrome 2, 614669 (3), Autosomal recessive, Autosomal dominant +ENSG00000101346 Dowling-Degos disease 2, 615327 (3), Autosomal dominant +ENSG00000101347 Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive; ?Chilblain lupus 2, 614415 (3), Autosomal dominant +ENSG00000101361 Spinocerebellar ataxia 36, 614153 (3), Autosomal dominant +ENSG00000101365 Retinitis pigmentosa 46, 612572 (3) +ENSG00000101384 Alagille syndrome 1, 118450 (3), Autosomal dominant; ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant +ENSG00000101400 Long QT syndrome 12, 612955 (3), Autosomal dominant +ENSG00000101421 Cataract 31, multiple types, 605387 (3), Autosomal dominant +ENSG00000101439 Cerebral amyloid angiopathy, 105150 (3), Autosomal dominant; {Macular degeneration, age-related, 11}, 611953 (3) +ENSG00000101440 [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3); [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3) +ENSG00000101444 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive +ENSG00000101577 Majeed syndrome, 609628 (3) +ENSG00000101596 Bosma arhinia microphthalmia syndrome, 603457 (3), Autosomal dominant; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) +ENSG00000101665 {Colorectal cancer, susceptibility to, 3}, 612229 (3) +ENSG00000101680 Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive +ENSG00000101695 Tenorio syndrome, 616260 (3), Autosomal dominant +ENSG00000101752 Left ventricular noncompaction 7, 615092 (3), Autosomal dominant +ENSG00000101773 Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive +ENSG00000101846 Ichthyosis, X-linked, 308100 (3), X-linked recessive +ENSG00000101850 Nystagmus 6, congenital, X-linked, 300814 (3); Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked +ENSG00000101868 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive +ENSG00000101871 Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive +ENSG00000101901 ?Congenital disorder of glycosylation, type Is, 300884 (3), X-linked dominant; Epileptic encephalopathy, early infantile, 36, 300884 (3), X-linked dominant +ENSG00000101935 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3), X-linked recessive +ENSG00000101938 Megalocornea 1, X-linked, 309300 (3), X-linked recessive +ENSG00000101966 Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive +ENSG00000101974 ?Hemolytic anemia, congenital, X-linked, 301015 (3), X-linked recessive +ENSG00000101981 {Deep venous thrombosis, protection against}, 300807 (3); Hemophilia B, 306900 (3), X-linked recessive; Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Warfarin sensitivity}, 122700 (3), Autosomal dominant +ENSG00000101986 Adrenoleukodystrophy, 300100 (3), X-linked recessive; Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive +ENSG00000101997 Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive +ENSG00000102001 Aland Island eye disease, 300600 (3), X-linked; Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked +ENSG00000102003 Mental retardation, X-linked 96, 300802 (3), X-linked recessive +ENSG00000102024 Bone mineral density QTL18, osteoporosis, 300910 (3), X-linked dominant +ENSG00000102030 ?Microphthalmia, syndromic 1, 309800 (3), X-linked; Ogden syndrome, 300855 (3), X-linked recessive, X-linked dominant +ENSG00000102076 Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked +ENSG00000102081 Fragile X syndrome, 300624 (3), X-linked dominant; Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Premature ovarian failure 1, 311360 (3), X-linked +ENSG00000102100 Congenital disorder of glycosylation, type IIm, 300896 (3), X-linked dominant, Somatic mosaicism +ENSG00000102103 Renpenning syndrome, 309500 (3), X-linked recessive +ENSG00000102104 Retinoschisis, 312700 (3), X-linked recessive +ENSG00000102119 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive +ENSG00000102125 Barth syndrome, 302060 (3), X-linked recessive +ENSG00000102144 Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive +ENSG00000102145 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive +ENSG00000102158 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3) +ENSG00000102172 Mental retardation, X-linked, Snyder-Robinson type, 309583 (3), X-linked recessive +ENSG00000102174 Hypophosphatemic rickets, X-linked dominant, 307800 (3), X-linked dominant +ENSG00000102218 Retinitis pigmentosa 2, 312600 (3), X-linked +ENSG00000102245 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive +ENSG00000102302 Aarskog-Scott syndrome, 305400 (3), X-linked recessive; Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive +ENSG00000102312 Focal dermal hypoplasia, 305600 (3), X-linked dominant +ENSG00000102316 Bartter syndrome, type 5, antenatal, transient, 300971 (3), X-linked recessive +ENSG00000102359 ?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3) +ENSG00000102383 ?Mental retardation, X-linked 91, 300577 (3), X-linked dominant +ENSG00000102393 Fabry disease, 301500 (3), X-linked; Fabry disease, cardiac variant, 301500 (3), X-linked +ENSG00000102452 Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive +ENSG00000102466 Spinocerebellar ataxia 27, 609307 (3), Autosomal dominant +ENSG00000102468 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Seasonal affective disorder, susceptibility to}, 608516 (3) +ENSG00000102575 Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive +ENSG00000102580 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive +ENSG00000102678 Multiple synostoses syndrome 3, 612961 (3), Autosomal dominant +ENSG00000102683 Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive +ENSG00000102743 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive +ENSG00000102805 Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive +ENSG00000102878 Cataract 5, multiple types, 116800 (3), Autosomal dominant +ENSG00000102879 Immunodeficiency 8, 615401 (3), Autosomal recessive +ENSG00000102893 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive +ENSG00000102900 Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive +ENSG00000102931 Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive +ENSG00000102935 Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant; Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant +ENSG00000102967 Miller syndrome, 263750 (3), Autosomal recessive +ENSG00000102974 Mental retardation, autosomal dominant 21, 615502 (3), Autosomal dominant +ENSG00000102977 ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal recessive, Autosomal dominant; ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3), Autosomal recessive, Autosomal dominant +ENSG00000103005 Poikiloderma with neutropenia, 604173 (3), Autosomal recessive +ENSG00000103043 Striatonigral degeneration, childhood-onset, 617054 (3), Autosomal recessive +ENSG00000103051 Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive; Saul-Wilson syndrome, 618150 (3) +ENSG00000103089 Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive +ENSG00000103126 ?Caudal duplication anomaly, 607864 (3); Hepatocellular carcinoma, somatic, 114550 (3) +ENSG00000103148 Epilepsy, familial focal, with variable foci 3, 617118 (3), Autosomal dominant +ENSG00000103150 Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive +ENSG00000103197 ?Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, somatic, 606690 (3); Tuberous sclerosis-2, 613254 (3), Autosomal dominant +ENSG00000103227 Lipase deficiency, combined, 246650 (3), Autosomal recessive +ENSG00000103241 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3), Autosomal dominant +ENSG00000103249 Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive +ENSG00000103264 ?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive +ENSG00000103266 Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive +ENSG00000103313 Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive +ENSG00000103316 Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant +ENSG00000103335 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant; Lymphedema, hereditary, III, 616843 (3), Autosomal recessive +ENSG00000103356 Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive +ENSG00000103449 Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant; Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant +ENSG00000103489 Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive +ENSG00000103494 COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 7, 611560 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive +ENSG00000103507 Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) +ENSG00000103522 [IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive +ENSG00000103546 Orthostatic intolerance, 604715 (3) +ENSG00000103591 Keratoderma, palmoplantar, punctate type IA, 148600 (3), Autosomal dominant +ENSG00000103657 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive +ENSG00000103671 ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3), Autosomal recessive; Spinal muscular atrophy with congenital bone fractures 1, 616866 (3), Autosomal recessive +ENSG00000103707 Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive +ENSG00000103723 Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive +ENSG00000103876 Tyrosinemia, type I, 276700 (3), Autosomal recessive +ENSG00000103942 ?Deafness, autosomal dominant 68, 616707 (3), Autosomal dominant +ENSG00000103995 Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive +ENSG00000104044 Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive +ENSG00000104055 Peeling skin syndrome 2, 609796 (3), Autosomal recessive +ENSG00000104093 ?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive +ENSG00000104133 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive +ENSG00000104164 ?Hermansky-pudlak syndrome 9, 614171 (3), Autosomal recessive +ENSG00000104213 Colorectal cancer, somatic, 114500 (3); Hepatocellular cancer, somatic, 114550 (3) +ENSG00000104218 Joubert syndrome 21, 615636 (3), Autosomal recessive +ENSG00000104237 Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant +ENSG00000104267 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive +ENSG00000104313 Anterior segment anomalies with or without cataract, 602588 (3), Autosomal dominant; Branchiootic syndrome 1, 602588 (3), Autosomal dominant; Branchiootorenal syndrome 1, with or without cataracts, 113650 (3), Autosomal dominant; ?Otofaciocervical syndrome, 166780 (3), Autosomal dominant +ENSG00000104320 Aplastic anemia, 609135 (3); Leukemia, acute lymphoblastic, 613065 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive +ENSG00000104321 ?Episodic pain syndrome, familial, 1, 615040 (3), Autosomal dominant +ENSG00000104331 Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive +ENSG00000104356 Anauxetic dysplasia 2, 617396 (3), Autosomal recessive +ENSG00000104365 Immunodeficiency 15, 615592 (3), Autosomal recessive +ENSG00000104369 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant +ENSG00000104381 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive +ENSG00000104413 ?Deafness, autosomal recessive 109, 618013 (3), Autosomal recessive +ENSG00000104419 Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive +ENSG00000104447 Trichorhinophalangeal syndrome, type I, 190350 (3), Autosomal dominant; Trichorhinophalangeal syndrome, type III, 190351 (3), Autosomal dominant +ENSG00000104450 Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive +ENSG00000104635 Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive; ?Hyperostosis cranalis interna, 144755 (3), Autosomal dominant +ENSG00000104723 Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive +ENSG00000104728 ?Slowed nerve conduction velocity, AD, 608236 (3), Autosomal dominant +ENSG00000104738 Immunodeficiency 54, 609981 (3), Autosomal recessive +ENSG00000104763 Farber lipogranulomatosis, 228000 (3), Autosomal recessive; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive +ENSG00000104774 Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive +ENSG00000104783 Dehydrated hereditary stomatocytosis 2, 616689 (3), Autosomal dominant +ENSG00000104812 Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive +ENSG00000104826 Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive +ENSG00000104833 Dystonia 4, torsion, autosomal dominant, 128101 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 6, 612438 (3), Autosomal dominant +ENSG00000104835 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive +ENSG00000104856 ?Immunodeficiency 53, 617585 (3), Autosomal recessive +ENSG00000104880 Retinitis pigmentosa 78, 617433 (3), Autosomal recessive +ENSG00000104884 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive; Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive +ENSG00000104889 Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive +ENSG00000104899 Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive +ENSG00000104918 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000104936 Myotonic dystrophy 1, 160900 (3), Autosomal dominant +ENSG00000104953 Preimplantation embryonic lethality, 616814 (3), Autosomal recessive +ENSG00000104973 Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive +ENSG00000105048 Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive +ENSG00000105141 Ichthyosis, congenital, autosomal recessive 12, 617320 (3), Autosomal recessive +ENSG00000105146 Spermatogenic failure 5, 243060 (3), Autosomal recessive +ENSG00000105197 3-methylglutaconic aciduria, type IX, 617698 (3), Autosomal recessive +ENSG00000105204 Abdominal obesity-metabolic syndrome 3, 615812 (3), Autosomal dominant +ENSG00000105220 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive +ENSG00000105221 Diabetes mellitus, type II, 125853 (3), Autosomal dominant; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant +ENSG00000105223 ?Spinocerebellar ataxia 46, 617770 (3), Autosomal dominant +ENSG00000105227 Charcot-Marie-Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant +ENSG00000105270 +ENSG00000105329 Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive +ENSG00000105357 Deafness, autosomal dominant 4A, 600652 (3), Autosomal dominant; ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3), Autosomal dominant +ENSG00000105369 Agammaglobulinemia 3, 613501 (3), Autosomal recessive +ENSG00000105370 Cataract 19, multiple types, 615277 (3), Autosomal recessive +ENSG00000105371 [Blood group, Landsteiner-Wiener], 111250 (3) +ENSG00000105372 Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant +ENSG00000105379 Glutaric acidemia IIB, 231680 (3), Autosomal recessive +ENSG00000105392 Cone-rod retinal dystrophy-2, 120970 (3), Autosomal dominant; Leber congenital amaurosis 7, 613829 (3) +ENSG00000105397 Immunodeficiency 35, 611521 (3), Autosomal recessive +ENSG00000105409 Alternating hemiplegia of childhood 2, 614820 (3), Autosomal dominant; CAPOS syndrome, 601338 (3), Autosomal dominant; Dystonia-12, 128235 (3), Autosomal dominant +ENSG00000105429 Carpenter syndrome 2, 614976 (3), Autosomal recessive +ENSG00000105464 Epileptic encephalopathy, early infantile, 46, 617162 (3), Autosomal dominant +ENSG00000105479 Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive +ENSG00000105568 Mental retardation, autosomal dominant 36, 616362 (3), Autosomal dominant +ENSG00000105607 Glutaricaciduria, type I, 231670 (3), Autosomal recessive +ENSG00000105610 Blood group--Lutheran inhibitor, 111150 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3), Autosomal dominant; [Hereditary persistence of fetal hemoglobin], 613566 (3) +ENSG00000105618 Retinitis pigmentosa 11, 600138 (3), Autosomal dominant +ENSG00000105639 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive +ENSG00000105641 Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive +ENSG00000105647 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3), Autosomal dominant +ENSG00000105662 Mucoepidermoid salivary gland carcinoma (3) +ENSG00000105664 Epiphyseal dysplasia, multiple, 1, 132400 (3), Autosomal dominant; Pseudoachondroplasia, 177170 (3), Autosomal dominant +ENSG00000105695 Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive +ENSG00000105697 Hemochromatosis, type 2B, 613313 (3), Autosomal recessive +ENSG00000105711 Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 52, 617350 (3), Autosomal recessive +ENSG00000105722 Chitayat syndrome, 617180 (3), Autosomal dominant; Craniosynostosis 4, 600775 (3), Autosomal dominant +ENSG00000105738 ?Cataract 45, 616851 (3), Autosomal recessive +ENSG00000105755 Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive +ENSG00000105771 Heart and brain malformation syndrome, 616920 (3), Autosomal recessive +ENSG00000105792 Spermatogenic failure 24, 617959 (3), Autosomal recessive +ENSG00000105810 ?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive +ENSG00000105819 Multiple mitochondrial dysfunctions syndrome 6, 617954 (3), Autosomal recessive +ENSG00000105854 {Coronary artery disease, susceptibility to} (3) +ENSG00000105877 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive +ENSG00000105880 ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive +ENSG00000105928 Deafness, autosomal dominant 5, 600994 (3), Autosomal dominant +ENSG00000105929 Renal tubular acidosis, distal, autosomal recessive, 602722 (3) +ENSG00000105974 ?Lipodystrophy, congenital generalized, type 3, 612526 (3); ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3), Autosomal dominant; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant +ENSG00000105976 ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3) +ENSG00000105983 Acheiropody, 200500 (3), Autosomal recessive; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant +ENSG00000105991 Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-Alorainy syndrome, 601536 (3) +ENSG00000105993 Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3), Autosomal dominant +ENSG00000105996 Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant +ENSG00000106003 ?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3) +ENSG00000106009 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive; Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive +ENSG00000106012 ?Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive +ENSG00000106025 Exudative vitreoretinopathy 5, 613310 (3), Autosomal dominant +ENSG00000106031 Guttmacher syndrome, 176305 (3), Autosomal dominant; Hand-foot-uterus syndrome, 140000 (3), Autosomal dominant +ENSG00000106080 Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive +ENSG00000106105 Charcot-Marie-Tooth disease, type 2D, 601472 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant +ENSG00000106128 Growth hormone deficiency, isolated, type IB, 612781 (3) +ENSG00000106153 Parkinson disease 22, autosomal dominant, 616710 (3), Autosomal dominant +ENSG00000106211 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIB, 608634 (3), Autosomal dominant +ENSG00000106258 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3), Multifactorial +ENSG00000106290 Alazami-Yuan syndrome, 617126 (3), Autosomal recessive +ENSG00000106305 Leukodystrophy, hypomyelinating, 17, 618006 (3), Autosomal recessive +ENSG00000106327 Hemochromatosis, type 3, 604250 (3), Autosomal recessive +ENSG00000106331 {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, type 2, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young, type IX, 612225 (3) +ENSG00000106341 {Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant +ENSG00000106344 ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive +ENSG00000106348 Leber congenital amaurosis 11, 613837 (3); Retinitis pigmentosa 10, 180105 (3), Autosomal dominant +ENSG00000106366 Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant; {Transcription of plasminogen activator inhibitor, modulator of} (3) +ENSG00000106367 MEDNIK syndrome, 609313 (3), Autosomal recessive +ENSG00000106397 Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive +ENSG00000106410 Premature ovarian failure 5, 611548 (3), Autosomal dominant +ENSG00000106415 {Glucocorticoid therapy, response to}, 614400 (3) +ENSG00000106460 Leukodystrophy, hypomyelinating, 16, 617964 (3), Autosomal dominant +ENSG00000106462 Weaver syndrome, 277590 (3), Autosomal dominant +ENSG00000106477 Joubert syndrome 15, 614464 (3), Autosomal recessive +ENSG00000106483 Pyle disease, 265900 (3), Autosomal recessive +ENSG00000106536 {Wilms tumor susceptibility-5}, 601583 (3), Autosomal dominant, Somatic mutation +ENSG00000106571 Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; {Hypothalamic hamartomas, somatic}, 241800 (3); Pallister-Hall syndrome, 146510 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700 (3), Autosomal dominant +ENSG00000106605 Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant +ENSG00000106617 Cardiomyopathy, hypertrophic 6, 600858 (3), Autosomal dominant; Glycogen storage disease of heart, lethal congenital, 261740 (3), Autosomal dominant; Wolff-Parkinson-White syndrome, 194200 (3), ?Autosomal dominant +ENSG00000106624 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive +ENSG00000106633 Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant; MODY, type II, 125851 (3), Autosomal dominant +ENSG00000106688 Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive; {?Schizophrenia susceptibility 18}, 615232 (3) +ENSG00000106692 Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive +ENSG00000106799 Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant; {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal dominant +ENSG00000106804 C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3), Autosomal dominant +ENSG00000106819 {Lumbar disc degeneration}, 603932 (3); {Osteoarthritis susceptibility 3}, 607850 (3), Autosomal dominant +ENSG00000106976 Epileptic encephalopathy, early infantile, 31, 616346 (3), Autosomal dominant +ENSG00000106991 Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal dominant +ENSG00000106992 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive +ENSG00000107099 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive +ENSG00000107104 Cerebral palsy, spastic quadriplegic, 2, 612900 (3) +ENSG00000107147 Epilepsy, nocturnal frontal lobe, 5, 615005 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 14, 614959 (3), Autosomal dominant +ENSG00000107165 Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive; [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3) +ENSG00000107186 Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive +ENSG00000107187 Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive +ENSG00000107201 Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant +ENSG00000107249 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive +ENSG00000107290 Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 1, 606002 (3), Autosomal recessive +ENSG00000107371 Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive +ENSG00000107404 Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant +ENSG00000107485 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3), Autosomal dominant +ENSG00000107521 Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive +ENSG00000107537 Refsum disease, 266500 (3), Autosomal recessive +ENSG00000107562 {AIDS, resistance to}, 609423 (3) +ENSG00000107566 Spastic paraplegia 62, 615681 (3), Autosomal recessive +ENSG00000107611 Megaloblastic anemia-1, Finnish type, 261100 (3), Autosomal recessive +ENSG00000107736 Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive; {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Usher syndrome, type 1D, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive +ENSG00000107745 Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive +ENSG00000107779 Juvenile polyposis syndrome, infantile form, 174900 (3), Autosomal dominant; Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant +ENSG00000107789 Thyroid carcinoma, follicular, 188470 (3), Autosomal dominant +ENSG00000107796 Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3), Autosomal dominant +ENSG00000107798 Cholesteryl ester storage disease, 278000 (3), Autosomal recessive; Wolman disease, 278000 (3), Autosomal recessive +ENSG00000107815 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Perrault syndrome 5, 616138 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant +ENSG00000107831 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3), Autosomal dominant +ENSG00000107859 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, multiple types, 610623 (3), Autosomal dominant; Cataract 11, syndromic, 610623 (3), Autosomal dominant +ENSG00000107882 Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive; Medulloblastoma, desmoplastic, 155255 (3), Autosomal recessive, Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant +ENSG00000107890 Thrombocytopenia 2, 188000 (3), Autosomal dominant +ENSG00000107951 ?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive +ENSG00000107960 Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3), Autosomal recessive +ENSG00000107968 Lung cancer, somatic, 211980 (3) +ENSG00000108001 Hypotonia, ataxia, and delayed development syndrome, 617330 (3), Autosomal dominant +ENSG00000108055 Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant +ENSG00000108061 Noonan-like syndrome with loose anagen hair, 607721 (3), Autosomal dominant +ENSG00000108064 ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive +ENSG00000108176 Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive +ENSG00000108231 Epilepsy, familial temporal lobe, 1, 600512 (3), Autosomal dominant +ENSG00000108255 Cataract 10, multiple types, 600881 (3), Autosomal dominant +ENSG00000108312 Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3), Autosomal dominant +ENSG00000108370 Bradyopsia, 608415 (3) +ENSG00000108375 Sessile serrated polyposis cancer syndrome, 617108 (3), Autosomal dominant +ENSG00000108379 ?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive +ENSG00000108381 Canavan disease, 271900 (3), Autosomal recessive +ENSG00000108384 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive +ENSG00000108395 Mulibrey nanism, 253250 (3), Autosomal recessive +ENSG00000108433 Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive +ENSG00000108439 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive +ENSG00000108474 CHIME syndrome, 280000 (3), Autosomal recessive +ENSG00000108479 Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive +ENSG00000108515 ?Glycogen storage disease XIII, 612932 (3), Autosomal recessive +ENSG00000108518 Amyotrophic lateral sclerosis 18, 614808 (3) +ENSG00000108556 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive +ENSG00000108557 Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated cases +ENSG00000108561 Combined oxidative phosphorylation deficiency 33, 617713 (3), Autosomal recessive +ENSG00000108576 {Anxiety-related personality traits}, 607834 (3); {Obsessive-compulsive disorder}, 164230 (3), Autosomal dominant +ENSG00000108599 {Cardiac conduction defect, susceptibility to}, 115080 (3), Autosomal dominant +ENSG00000108604 Specific granule deficiency 2, 617475 (3), Autosomal recessive +ENSG00000108641 Joubert syndrome 27, 617120 (3), Autosomal recessive; ?Meckel syndrome 9, 614209 (3), Autosomal recessive +ENSG00000108691 {Coronary artery disease, modifier of} (3); {HIV-1, resistance to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {Spina bifida, susceptibility to}, 182940 (3), Autosomal dominant +ENSG00000108733 Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive; Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive +ENSG00000108784 ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive +ENSG00000108797 Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive +ENSG00000108813 ?Orofacial cleft 15, 616788 (3), Autosomal dominant +ENSG00000108821 {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant +ENSG00000108823 Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive +ENSG00000108883 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal dominant +ENSG00000108946 Acrodysostosis 1, with or without hormone resistance, 101800 (3), Autosomal dominant; Adrenocortical tumor, somatic (3); Carney complex, type 1, 160980 (3), Autosomal dominant; Myxoma, intracardiac, 255960 (3), Autosomal dominant; Pigmented nodular adrenocortical disease, primary, 1, 610489 (3), Autosomal dominant +ENSG00000108950 Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive +ENSG00000108963 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive +ENSG00000109062 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3), Autosomal dominant +ENSG00000109063 Arthrogryposis, distal, type 2A, 193700 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; Arthrogryposis, distal, type 8, 178110 (3), Autosomal dominant +ENSG00000109099 Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant +ENSG00000109101 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive +ENSG00000109103 ?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3), Autosomal dominant +ENSG00000109132 Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3), Autosomal dominant; Neuroblastoma with Hirschsprung disease, 613013 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3) +ENSG00000109163 Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive +ENSG00000109220 {Leukemia, acute myeloid}, 601626 (3), Autosomal dominant +ENSG00000109320 Immunodeficiency, common variable, 12, 616576 (3), Autosomal dominant +ENSG00000109323 Mannosidosis, beta, 248510 (3), Autosomal recessive +ENSG00000109424 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000109458 ?Deafness, autosomal recessive 26, 605428 (3), Autosomal recessive +ENSG00000109501 ?Cataract 41, 116400 (3), Autosomal dominant; Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant +ENSG00000109610 [Superoxide dismutase, elevated extracellular] (3) +ENSG00000109618 Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive +ENSG00000109654 Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive +ENSG00000109667 Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant; {Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant +ENSG00000109705 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive +ENSG00000109738 Hyperekplexia 2, 614619 (3), Autosomal recessive +ENSG00000109756 ?Epilepsy, familial adult myoclonic, 7, 618075 (3) +ENSG00000109775 ?Hip dysplasia, Beukes type, 142669 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3), Autosomal dominant +ENSG00000109846 Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant; Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive +ENSG00000109861 Haim-Munk syndrome, 245010 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive; Periodontitis 1, juvenile, 170650 (3), Autosomal recessive +ENSG00000109906 Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive +ENSG00000109911 ?Aniridia 2, 617141 (3), Autosomal dominant +ENSG00000109927 Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive +ENSG00000109929 Lathosterolosis, 607330 (3), Autosomal recessive +ENSG00000110013 {Autoimmune disease, susceptibility to, 6}, 613551 (3) +ENSG00000110057 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3) +ENSG00000110060 ?Mental retardation, autosomal recessive 55, 617051 (3), Autosomal recessive +ENSG00000110063 Al-Raqad syndrome, 616459 (3), Autosomal recessive +ENSG00000110066 Mental retardation, autosomal dominant 51, 617788 (3), Autosomal dominant +ENSG00000110074 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000110090 CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive +ENSG00000110092 {Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Multiple myeloma, susceptibility to}, 254500 (3), Somatic mutation; {von Hippel-Lindau syndrome, modifier of}, 193300 (3), Autosomal dominant +ENSG00000110195 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive +ENSG00000110243 Hyperchylomicronemia, late-onset, 144650 (3), Autosomal dominant; {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant +ENSG00000110245 Apolipoprotein C-III deficiency, 614028 (3) +ENSG00000110274 Nephronophthisis 15, 614845 (3), Autosomal recessive +ENSG00000110324 Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive +ENSG00000110395 ?Juvenile myelomonocytic leukemia, 607785 (3), Autosomal dominant, Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant +ENSG00000110400 Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive; Orofacial cleft 7, 225060 (3), Autosomal recessive +ENSG00000110435 Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive +ENSG00000110436 Epileptic encephalopathy, early infantile, 41, 617105 (3), Autosomal dominant +ENSG00000110628 Breast cancer, somatic, 114480 (3); Lung cancer, somatic, 211980 (3); Rhabdomyosarcoma, somatic, 268210 (3) +ENSG00000110651 Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive +ENSG00000110711 Pituitary adenoma 1, multiple types, 102200 (3), Autosomal dominant, Somatic mutation; Pituitary adenoma predisposition, 102000 (3), Autosomal dominant +ENSG00000110717 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000110719 Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive +ENSG00000110723 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive +ENSG00000110756 Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive +ENSG00000110799 von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willibrand disease, type 3, 277480 (3), Autosomal recessive +ENSG00000110911 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive +ENSG00000110921 Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Mevalonic aciduria, 610377 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant +ENSG00000110987 B-cell non-Hodgkin lymphoma, high-grade (3) +ENSG00000111012 Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive +ENSG00000111046 Centronuclear myopathy 3, 614408 (3), Autosomal dominant +ENSG00000111049 Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3) +ENSG00000111057 Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive +ENSG00000111087 Polydactyly, postaxial, type A8, 618123 (3) +ENSG00000111199 ?Avascular necrosis of femoral head, primary, 2, 617383 (3), Autosomal dominant; Brachyolmia type 3, 113500 (3), Autosomal dominant; Digital arthropathy-brachydactyly, familial, 606835 (3), Autosomal dominant; Hereditary motor and sensory neuropathy, type IIc, 606071 (3), Autosomal dominant; Metatropic dysplasia, 156530 (3), Autosomal dominant; Parastremmatic dwarfism, 168400 (3), Autosomal dominant; SED, Maroteaux type, 184095 (3), Autosomal dominant; Scapuloperoneal spinal muscular atrophy, 181405 (3), Autosomal dominant; [Sodium serum level QTL 1], 613508 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3), Autosomal dominant; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3), Autosomal dominant +ENSG00000111245 Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant +ENSG00000111249 Epileptic encephalopathy, early infantile, 67, 618141 (3), Autosomal dominant +ENSG00000111252 Erythrocytosis, somatic, 133100 (3); Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) +ENSG00000111262 Episodic ataxia/myokymia syndrome, 160120 (3), Autosomal dominant +ENSG00000111275 Alcohol sensitivity, acute, 610251 (3), Autosomal dominant; {Esophageal cancer, alcohol-related, susceptibility to} (3); {Hangover, susceptibility to}, 610251 (3), Autosomal dominant; {Sublingual nitroglycerin, susceptibility to poor response to} (3) +ENSG00000111276 Multiple endocrine neoplasia, type IV, 610755 (3), Autosomal dominant +ENSG00000111319 Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant; ?Liddle syndrome 3, 618126 (3); Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive +ENSG00000111339 [Blood group, Dombrock], 616060 (3) +ENSG00000111341 Keutel syndrome, 245150 (3), Autosomal recessive +ENSG00000111361 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive +ENSG00000111424 ?Osteoporosis, involutional, 166710 (1), Autosomal dominant; Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive +ENSG00000111537 {AIDS, rapid progression to}, 609423 (3); {Aplastic anemia}, 609135 (3); {Hepatitis C virus, response to therapy of}, 609532 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Tuberculosis, protection against}, 607948 (3) +ENSG00000111581 Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive; ?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive +ENSG00000111642 Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant +ENSG00000111664 {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive +ENSG00000111669 Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive +ENSG00000111670 Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive; Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive +ENSG00000111676 Dentatorubro-pallidoluysian atrophy, 125370 (3), Autosomal dominant +ENSG00000111678 Temtamy syndrome, 218340 (3), Autosomal recessive +ENSG00000111700 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive +ENSG00000111713 Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive +ENSG00000111716 [Lactate dehydrogenase-B deficiency], 614128 (3) +ENSG00000111732 Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive +ENSG00000111752 ?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive +ENSG00000111775 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive +ENSG00000111799 Bethlem myopathy 2, 616471 (3), Autosomal dominant; ?Ullrich congenital muscular dystrophy 2, 616470 (3) +ENSG00000111802 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive +ENSG00000111817 Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive +ENSG00000111834 Ciliary dyskinesia, primary, 11, 612649 (3) +ENSG00000111837 Retinitis pigmentosa 62, 614181 (3), Autosomal recessive +ENSG00000111846 Adult i phenotype without cataract, 110800 (3), Autosomal dominant; [Blood group, Ii], 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive +ENSG00000111877 Ovarian dysgenesis 4, 616185 (3), Autosomal recessive +ENSG00000111913 ?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive +ENSG00000112039 Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive +ENSG00000112041 Leber congenital amaurosis 15, 613843 (3), Autosomal recessive; Retinitis pigmentosa 14, 600132 (3), Autosomal recessive +ENSG00000112053 Spermatogenic failure 3, 606766 (3), Autosomal dominant +ENSG00000112077 Anemia, hemolytic, Rh-null, regulator type, 268150 (3), Autosomal dominant; Overhydrated hereditary stomatocytosis, 185000 (3), Autosomal dominant +ENSG00000112096 {Microvascular complications of diabetes 6}, 612634 (3) +ENSG00000112116 ?Candidiasis, familial, 6, autosomal dominant, 613956 (3) +ENSG00000112144 Endocrine-cerebroosteodysplasia, 612651 (3), Autosomal recessive; {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3), Autosomal dominant +ENSG00000112210 Carpenter syndrome, 201000 (3), Autosomal recessive +ENSG00000112234 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive +ENSG00000112246 Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000112276 ?Cardiac arrhythmia with increased serum creatine kinase, 616812 (3), Autosomal recessive +ENSG00000112280 ?Epiphyseal dysplasia, multiple, 6, 614135 (3), Autosomal dominant; Stickler syndrome, type IV, 614134 (3) +ENSG00000112282 Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive +ENSG00000112294 Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive +ENSG00000112299 [High density lipoprotein cholesterol level QTL 8] (3) +ENSG00000112312 Meier-Gorlin syndrome 6, 616835 (3), Autosomal dominant +ENSG00000112319 ?Cardiomyopathy, dilated, 1J, 605362 (3), Autosomal dominant; Deafness, autosomal dominant 10, 601316 (3), Autosomal dominant +ENSG00000112320 Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive +ENSG00000112357 Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive +ENSG00000112365 Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive +ENSG00000112367 Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Yunis-Varon syndrome, 216340 (3), Autosomal recessive +ENSG00000112414 Lethal congenital contracture syndrome 9, 616503 (3), Autosomal recessive +ENSG00000112425 Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive +ENSG00000112541 Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive; Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant +ENSG00000112562 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive +ENSG00000112592 {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant +ENSG00000112599 Retinitis pigmentosa 48, 613827 (3) +ENSG00000112619 Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant +ENSG00000112640 Mental retardation, autosomal dominant 35, 616355 (3), Autosomal dominant +ENSG00000112706 Macular dystrophy, vitelliform, 4, 616151 (3), Autosomal dominant +ENSG00000112715 {Microvascular complications of diabetes 1}, 603933 (3) +ENSG00000112761 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3), Autosomal recessive; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3), Autosomal recessive +ENSG00000112769 Cardiomyopathy, dilated, 1JJ, 615235 (3), Autosomal dominant +ENSG00000112773 Osteogenesis imperfecta, type XVIII, 617952 (3), Autosomal recessive +ENSG00000112782 ?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive +ENSG00000112837 Congenital anomalies of kidney and urinary tract 2, 143400 (3), Autosomal dominant +ENSG00000112855 ?Perrault syndrome 2, 614926 (3), Autosomal recessive +ENSG00000112936 C7 deficiency, 610102 (3) +ENSG00000112964 Growth hormone insensitivity, partial, 604271 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant; Increased responsiveness to growth hormone, 604271 (3); Laron dwarfism, 262500 (3), Autosomal recessive +ENSG00000112992 Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive +ENSG00000113013 Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant; Even-plus syndrome, 616854 (3), Autosomal recessive +ENSG00000113083 Aortic aneurysm, familial thoracic 10, 617168 (3), Autosomal dominant +ENSG00000113140 Osteogenesis imperfecta, type XVII, 616507 (3), Autosomal recessive +ENSG00000113161 [Low density lipoprotein cholesterol level QTL 3] (3); [Statins, attenuated cholesterol lowering by] (3) +ENSG00000113163 Mental retardation, autosomal dominant 34, 616351 (3), Autosomal dominant +ENSG00000113231 Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3), Autosomal dominant +ENSG00000113262 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive +ENSG00000113263 Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive +ENSG00000113273 Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive +ENSG00000113302 Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive +ENSG00000113318 Endometrial carcinoma, somatic, 608089 (3); Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive +ENSG00000113327 {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3), Autosomal dominant; Febrile seizures, familial, 8, 611277 (3), Autosomal dominant +ENSG00000113368 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3), Autosomal dominant +ENSG00000113448 Acrodysostosis 2, with or without hormone resistance, 614613 (3), Autosomal dominant; {Stroke, susceptibility to, 1}, 606799 (3) +ENSG00000113492 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive +ENSG00000113494 ?Hyperprolactinemia, 615555 (3), Autosomal dominant; Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant +ENSG00000113522 Nijmegen breakage syndrome-like disorder, 613078 (3) +ENSG00000113555 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive +ENSG00000113569 ?Atrial fibrillation 15, 615770 (3), Autosomal recessive +ENSG00000113580 Glucocorticoid resistance, 615962 (3), Autosomal dominant +ENSG00000113594 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive +ENSG00000113600 C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3) +ENSG00000113643 Leukodystrophy, hypomyelinating, 9, 616140 (3), Autosomal recessive +ENSG00000113645 [Memory, enhanced, QTL], 615602 (3) +ENSG00000113719 ?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3), Autosomal recessive +ENSG00000113721 Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant; Myeloproliferative disorder with eosinophilia, 131440 (4), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant; Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant +ENSG00000113790 ?Fanconi renotubular syndrome 3, 615605 (3), Autosomal dominant +ENSG00000113845 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000113851 Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive +ENSG00000113889 [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive; [Kininogen deficiency], 228960 (3), Autosomal recessive +ENSG00000113905 Thrombophilia due to HRG deficiency, 613116 (3), Autosomal dominant; Thrombophilia due to elevated HRG, 613116 (1), Autosomal dominant +ENSG00000113924 Alkaptonuria, 203500 (3), Autosomal recessive +ENSG00000113946 Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive +ENSG00000113966 {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive; Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive; ?Retinitis pigmentosa 55, 613575 (3) +ENSG00000113971 Meckel syndrome 7, 267010 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive +ENSG00000114026 Renal cell carcinoma, clear cell, somatic, 144700 (3) +ENSG00000114054 Propionicacidemia, 606054 (3), Autosomal recessive +ENSG00000114062 Angelman syndrome, 105830 (3), Isolated cases +ENSG00000114200 {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3); Butyrylcholinesterase deficiency, 617936 (3) +ENSG00000114209 Cerebral cavernous malformations 3, 603285 (3) +ENSG00000114251 Robinow syndrome, autosomal dominant 1, 180700 (3), Autosomal dominant +ENSG00000114270 EBD inversa, 226600 (3), Autosomal recessive; EBD, Bart type, 132000 (3), Autosomal dominant; EBD, localisata variant (3); Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant +ENSG00000114279 Epileptic encephalopathy, early infantile, 47, 617166 (3), Autosomal dominant +ENSG00000114349 Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant; Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive +ENSG00000114353 Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia, idiopathic, 192605 (3), Autosomal dominant +ENSG00000114354 Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant; ?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive +ENSG00000114374 Spermatogenic failure, Y-linked, 2, 415000 (3), Y-linked +ENSG00000114378 ?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive +ENSG00000114388 Epilepsy, familial focal, with variable foci 2, 617116 (3), Autosomal dominant +ENSG00000114446 ?Orofaciodigital syndrome XVIII, 617927 (3), Autosomal recessive +ENSG00000114450 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3), Autosomal dominant +ENSG00000114480 Glycogen storage disease IV, 232500 (3), Autosomal recessive; Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive +ENSG00000114491 Orotic aciduria, 258900 (3), Autosomal recessive +ENSG00000114573 Cutis laxa, autosomal recessive, type IID, 617403 (3), Autosomal recessive; Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3), Autosomal dominant +ENSG00000114686 Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive +ENSG00000114737 {Bacteremia, susceptibility to}, 614383 (3); {Malaria, susceptibility to}, 611162 (3); {Tuberculosis, susceptibility to}, 607948 (3) +ENSG00000114738 ?Macular dystrophy, patterned, 3, 617111 (3), Autosomal dominant +ENSG00000114739 Heterotaxy, visceral, 4, autosomal, 613751 (3) +ENSG00000114796 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3), Autosomal dominant +ENSG00000114841 ?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive; Spermatogenic failure 18, 617576 (3), Autosomal recessive +ENSG00000114854 Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3), Autosomal dominant +ENSG00000114859 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant; Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive +ENSG00000114861 Mental retardation with language impairment and with or without autistic features, 613670 (3), Autosomal dominant +ENSG00000114867 {Parkinson disease 18}, 614251 (3), Autosomal dominant +ENSG00000114956 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive; Portal hypertension, noncirrhotic, 617068 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive +ENSG00000114988 ?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive +ENSG00000115020 Corneal fleck dystrophy, 121850 (3), Autosomal dominant +ENSG00000115085 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive; Immunodeficiency 48, 269840 (3), Autosomal recessive +ENSG00000115107 ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3), Autosomal dominant +ENSG00000115138 Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive; {Obesity, early-onset, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000115155 Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive +ENSG00000115159 {Diabetes, type 2, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000115170 Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant +ENSG00000115204 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive +ENSG00000115211 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive +ENSG00000115221 Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive +ENSG00000115255 Retinitis pigmentosa 77, 617304 (3), Autosomal recessive +ENSG00000115266 ?Sotos syndrome 3, 617169 (3), Autosomal recessive +ENSG00000115267 Aicardi-Goutieres syndrome 7, 615846 (3), Autosomal dominant; Singleton-Merten syndrome 1, 182250 (3), Autosomal dominant +ENSG00000115275 Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive +ENSG00000115286 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000115317 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive; {Parkinson disease 13}, 610297 (3) +ENSG00000115339 Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive +ENSG00000115355 ?PEHO syndrome-like, 617507 (3), Autosomal recessive +ENSG00000115380 Doyne honeycomb degeneration of retina, 126600 (3), Autosomal dominant +ENSG00000115392 Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive +ENSG00000115414 Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal dominant; Plasma fibronectin deficiency, 614101 (1), Autosomal dominant; Spondylometaphyseal dysplasia, corner fracture type, 184255 (3), Autosomal dominant +ENSG00000115415 Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive; Immunodeficiency 31C, autosomal dominant, 614162 (3), Autosomal dominant +ENSG00000115459 ?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive +ENSG00000115474 Leber congenital amaurosis 16, 614186 (3), Autosomal recessive; Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant +ENSG00000115486 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3); Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive +ENSG00000115504 {Prostate cancer, hereditary, 12}, 611868 (3) +ENSG00000115524 Myelodysplastic syndrome, somatic, 614286 (3) +ENSG00000115525 Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive +ENSG00000115648 Griscelli syndrome, type 3, 609227 (3), Autosomal recessive +ENSG00000115657 [Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; Microphthalmia, isolated, with coloboma 7, 614497 (3), Autosomal dominant; Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant +ENSG00000115665 Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant +ENSG00000115705 Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive +ENSG00000115718 Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive +ENSG00000115758 {Colonic adenoma recurrence, reduced risk of}, 114500 (3), Autosomal dominant +ENSG00000115827 Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive +ENSG00000115839 Warburg micro syndrome 1, 600118 (3), Autosomal recessive +ENSG00000115840 Epileptic encephalopathy, early infantile, 39, 612949 (3), Autosomal recessive +ENSG00000115850 Lactase deficiency, congenital, 223000 (3), Autosomal recessive +ENSG00000115866 Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3), Autosomal recessive +ENSG00000115902 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3), Autosomal recessive +ENSG00000115904 ?Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant; Noonan syndrome 4, 610733 (3), Autosomal dominant +ENSG00000115919 ?Hydroxykynureninuria, 236800 (3), Autosomal recessive; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive +ENSG00000115935 ?Wiskott-Aldrich syndrome 2, 614493 (3) +ENSG00000115947 Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive +ENSG00000116001 Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant +ENSG00000116014 Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant +ENSG00000116016 Erythrocytosis, familial, 4, 611783 (3) +ENSG00000116030 ?Orofacial cleft 10, 613705 (3), Isolated cases +ENSG00000116031 [?Birbeck granule deficiency], 613393 (3) +ENSG00000116039 Renal tubular acidosis with deafness, 267300 (3), Autosomal recessive +ENSG00000116044 Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3), Autosomal dominant +ENSG00000116062 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant; Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive +ENSG00000116096 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive +ENSG00000116120 ?Neurodevelopmental disorder with brain, liver, and lung abnormalities, 618007 (3), Autosomal recessive +ENSG00000116127 Alstrom syndrome, 203800 (3), Autosomal recessive +ENSG00000116132 Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant +ENSG00000116133 Desmosterolosis, 602398 (3), Autosomal recessive +ENSG00000116171 ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive +ENSG00000116198 Joubert syndrome 25, 616781 (3), Autosomal recessive +ENSG00000116218 Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive +ENSG00000116288 Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive +ENSG00000116337 Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive; ?Spastic paraplegia 63, 615686 (3), Autosomal recessive +ENSG00000116353 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3), Autosomal recessive +ENSG00000116539 Mental retardation, autosomal dominant 52, 617796 (3), Autosomal dominant +ENSG00000116584 ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3), Autosomal recessive +ENSG00000116586 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive +ENSG00000116641 Epileptic encephalopathy, early infantile, 23, 615859 (3), Autosomal recessive +ENSG00000116670 ?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive +ENSG00000116675 Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive; Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive +ENSG00000116678 Obesity, morbid, due to leptin receptor deficiency, 614963 (3) +ENSG00000116688 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant +ENSG00000116690 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive +ENSG00000116701 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3), Autosomal recessive +ENSG00000116704 Schneckenbecken dysplasia, 269250 (3), Autosomal recessive +ENSG00000116711 Phospholipase A2, group IV A, deficiency of (3) +ENSG00000116745 Leber congenital amaurosis 2, 204100 (3), Autosomal recessive; Retinitis pigmentosa 20, 613794 (3), Autosomal recessive +ENSG00000116748 Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive +ENSG00000116761 Cystathioninuria, 219500 (3), Autosomal recessive; Homocysteine, total plasma, elevated (3) +ENSG00000116783 ?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3), Autosomal dominant +ENSG00000116785 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant +ENSG00000116874 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive +ENSG00000116906 Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive +ENSG00000116984 Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive +ENSG00000117013 Deafness, autosomal dominant 2A, 600101 (3), Autosomal dominant +ENSG00000117020 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3), Autosomal dominant +ENSG00000117054 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive +ENSG00000117118 Gastrointestinal stromal tumor, 606444 (3); Paragangliolas 4, 115310 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Pheochromocytoma, 171300 (3), Autosomal dominant +ENSG00000117139 Mental retardation, autosomal recessive 65, 618109 (3), Autosomal recessive +ENSG00000117298 ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3), Autosomal dominant; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial +ENSG00000117305 HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive +ENSG00000117308 Galactose epimerase deficiency, 230350 (3), Autosomal recessive +ENSG00000117322 Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive; {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3) +ENSG00000117335 {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant +ENSG00000117360 Retinitis pigmentosa 18, 601414 (3), Autosomal dominant +ENSG00000117385 Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive +ENSG00000117394 Dystonia 9, 601042 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant +ENSG00000117400 Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocythemia 2, 601977 (3), Autosomal dominant, Somatic mutation; Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive +ENSG00000117425 Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3) +ENSG00000117450 Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3), Autosomal recessive +ENSG00000117479 Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive +ENSG00000117480 {Drug addiction, susceptibility to}, 606581 (3) +ENSG00000117528 ?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive +ENSG00000117560 Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive +ENSG00000117586 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000117593 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive +ENSG00000117594 Cortisone reductase deficiency 2, 614662 (3), Autosomal dominant +ENSG00000117595 {Orofacial cleft 6}, 608864 (3), Isolated cases; Popliteal pterygium syndrome 1, 119500 (3), Autosomal dominant; van der Woude syndrome, 119300 (3), Autosomal dominant +ENSG00000117601 Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant +ENSG00000117620 ?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive +ENSG00000117650 ?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive +ENSG00000117682 ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive; Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; Retinitis pigmentosa 59, 613861 (3), Autosomal recessive +ENSG00000117713 Coffin-Siris syndrome 2, 614607 (3), Autosomal dominant +ENSG00000117724 Stromme syndrome, 243605 (3), Autosomal recessive +ENSG00000117983 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant +ENSG00000117984 Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive +ENSG00000118004 3MC syndrome 2, 265050 (3), Autosomal recessive +ENSG00000118007 Mental retardation, autosomal dominant 47, 617635 (3), Autosomal dominant +ENSG00000118046 Melanoma, malignant, somatic (3); Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial; Peutz-Jeghers syndrome, 175200 (3), Autosomal dominant; Testicular tumor, somatic, 273300 (3) +ENSG00000118058 Leukemia, myeloid/lymphoid or mixed-lineage, 159555 (2), Autosomal dominant; Wiedemann-Steiner syndrome, 605130 (3), Autosomal dominant +ENSG00000118094 Trehalase deficiency, 612119 (3), Autosomal recessive +ENSG00000118137 Amyloidosis, 3 or more types, 105200 (3), Autosomal dominant; ApoA-I and apoC-III deficiency, combined (3); Corneal clouding, autosomal recessive (3); Hypoalphalipoproteinemia, 604091 (3) +ENSG00000118162 Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive +ENSG00000118193 ?Meckel syndrome 12, 616258 (3), Autosomal recessive; Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive +ENSG00000118194 Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Left ventricular noncompaction 6, 601494 (3), Autosomal dominant +ENSG00000118197 Orofaciodigital syndrome V, 174300 (3), Autosomal recessive +ENSG00000118217 Achromatopsia 7, 616517 (3), Autosomal recessive +ENSG00000118231 Cataract 4, multiple types, 115700 (3), Autosomal dominant +ENSG00000118246 ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000118260 Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) +ENSG00000118271 Amyloidosis, hereditary, transthyretin-related, 105210 (3), Autosomal dominant; Carpal tunnel syndrome, familial, 115430 (3), Autosomal dominant; [Dystransthyretinemic hyperthyroxinemia], 145680 (3), Autosomal dominant +ENSG00000118402 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive; Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant +ENSG00000118503 Autoinflammatory syndrome, familial, Behcet-like, 616744 (3), Autosomal dominant +ENSG00000118513 {T-cell acute lymphoblastic leukemia} (3) +ENSG00000118520 Argininemia, 207800 (3), Autosomal recessive +ENSG00000118557 Spermatogenic failure 31, 618112 (3), Autosomal recessive +ENSG00000118600 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3), Autosomal recessive +ENSG00000118729 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive +ENSG00000118762 Polycystic kidney disease 2, 613095 (3), Autosomal dominant +ENSG00000118777 [Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3), ?Autosomal dominant +ENSG00000118873 Martsolf syndrome, 212720 (3), Autosomal recessive; Warburg micro syndrome 2, 614225 (3), Autosomal recessive +ENSG00000118965 Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive +ENSG00000118971 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3), Autosomal dominant +ENSG00000118972 Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant; Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3) +ENSG00000119013 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000119042 Glass syndrome, 612313 (3), Autosomal dominant +ENSG00000119121 Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive +ENSG00000119139 Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3) +ENSG00000119333 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3), Autosomal recessive +ENSG00000119335 Mental retardation, autosomal dominant 58, 618106 (3), Autosomal dominant +ENSG00000119392 Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3); Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive +ENSG00000119401 ?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive +ENSG00000119508 Chondrosarcoma, extraskeletal myxoid, 612237 (3) +ENSG00000119509 Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive +ENSG00000119514 {Colorectal cancer, susceptibility to, 1}, 608812 (3) +ENSG00000119523 ?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive +ENSG00000119535 Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive +ENSG00000119537 Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive +ENSG00000119614 Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3) +ENSG00000119638 ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3), Autosomal recessive; Lethal congenital contracture syndrome 10, 617022 (3), Autosomal recessive; Nevus comedonicus, somatic, 617025 (3) +ENSG00000119650 ?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive +ENSG00000119655 Niemann-pick disease, type C2, 607625 (3), Autosomal recessive +ENSG00000119661 Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive +ENSG00000119669 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3), Autosomal dominant +ENSG00000119681 Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive +ENSG00000119684 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3); Colorectal cancer, somatic, 114500 (3); {Endometrial cancer, susceptibility to}, 608089 (3) +ENSG00000119685 Cone-rod dystrophy 19, 615860 (3), Autosomal recessive +ENSG00000119686 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive +ENSG00000119688 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive +ENSG00000119699 Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant +ENSG00000119711 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive +ENSG00000119714 Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive +ENSG00000119715 Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive +ENSG00000119718 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive +ENSG00000119723 Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive +ENSG00000119772 Acute myeloid leukemia, somatic, 601626 (3); Tatton-Brown-Rahman syndrome, 615879 (3), Autosomal dominant +ENSG00000119866 Dias-Logan syndrome, 617101 (3), Autosomal dominant +ENSG00000119878 Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive +ENSG00000119888 Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive +ENSG00000119899 Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive +ENSG00000119950 Neurofibrosarcoma, somatic (3); {Prostate cancer, susceptibility to, somatic}, 176807 (3) +ENSG00000119969 Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3), Autosomal recessive +ENSG00000119977 Joubert syndrome 18, 614815 (3), Autosomal recessive; Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive +ENSG00000120008 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3), Autosomal dominant +ENSG00000120053 Aspartate aminotransferase, serum level of, QTL1, 614419 (3) +ENSG00000120054 Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive +ENSG00000120071 Koolen-De Vries syndrome, 610443 (3), Autosomal dominant +ENSG00000120094 Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive +ENSG00000120149 Craniosynostosis 2, 604757 (3), Autosomal dominant; Parietal foramina 1, 168500 (3), Autosomal dominant; Parietal foramina with cleidocranial dysplasia, 168550 (3), Autosomal dominant +ENSG00000120156 Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant; Venous malformations, multiple cutaneous and mucosal, 600195 (3), Autosomal dominant +ENSG00000120370 Geroderma osteodysplasticum, 231070 (3), Autosomal recessive +ENSG00000120457 Hyperaldosteronism, familial, type III, 613677 (3), Autosomal dominant; Long QT syndrome 13, 613485 (3), Autosomal dominant +ENSG00000120498 Spermatogenic failure, X-linked, 2, 309120 (3), X-linked recessive +ENSG00000120500 Myopia 26, X-linked, female-limited, 301010 (3), X-linked +ENSG00000120659 Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive +ENSG00000120686 Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive +ENSG00000120693 Pulmonary hypertension, primary, 2, 615342 (3), Autosomal dominant +ENSG00000120699 Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive +ENSG00000120708 Corneal dystrophy, Avellino type, 607541 (3), Autosomal dominant; Corneal dystrophy, Groenouw type I, 121900 (3), Autosomal dominant; Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3), Autosomal dominant; Corneal dystrophy, epithelial basement membrane, 121820 (3), Autosomal dominant; Corneal dystrophy, lattice type I, 122200 (3), Autosomal dominant; Corneal dystrophy, lattice type IIIA, 608471 (3), Autosomal dominant +ENSG00000120725 Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive +ENSG00000120729 Myopathy, myofibrillar, 3, 609200 (3), Autosomal dominant; Myopathy, spheroid body, 182920 (3), Autosomal dominant +ENSG00000120889 Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive +ENSG00000120903 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3), Autosomal dominant +ENSG00000120915 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal dominant +ENSG00000120925 Ataxia, sensory, 1, autosomal dominant, 608984 (3), Autosomal dominant +ENSG00000120942 Corneal dystrophy, Schnyder type, 121800 (3), Autosomal dominant +ENSG00000120948 Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant; Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant +ENSG00000121053 [Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive +ENSG00000121075 Ischiocoxopodopatellar syndrome, 147891 (3), Autosomal dominant +ENSG00000121101 ?Spermatogenic failure 23, 617707 (3), Autosomal recessive +ENSG00000121152 ?Microcephaly 23, primary, autosomal recessive, 617985 (3), Autosomal recessive +ENSG00000121207 Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive +ENSG00000121270 [Axillary odor, variation in], 117800 (3), Autosomal dominant; [Colostrum secretion, variation in], 117800 (3), Autosomal dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant +ENSG00000121350 Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive +ENSG00000121454 Pituitary hormone deficiency, combined, 4, 262700 (3), Autosomal dominant +ENSG00000121552 Peeling skin syndrome 4, 607936 (3), Autosomal recessive +ENSG00000121634 Cataract 1, multiple types, 116200 (3), Autosomal dominant +ENSG00000121653 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant +ENSG00000121680 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive; Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive +ENSG00000121691 Acatalasemia, 614097 (3) +ENSG00000121742 Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Autosomal recessive; Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant +ENSG00000121743 Cataract 14, multiple types, 601885 (3), Autosomal dominant +ENSG00000121807 {HIV infection, susceptibility/resistance to} (3) +ENSG00000121853 Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant +ENSG00000121879 Breast cancer, somatic, 114480 (3); CLAPO syndrome, somatic, 613089 (3); CLOVE syndrome, somatic, 612918 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 5, 615108 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Keratosis, seborrheic, somatic, 182000 (3); Macrodactyly, somatic, 155500 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Nevus, epidermal, somatic, 162900 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Ovarian cancer, somatic, 167000 (3) +ENSG00000121897 Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive +ENSG00000121905 Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive +ENSG00000121957 Chudley-McCullough syndrome, 604213 (3), Autosomal recessive +ENSG00000121966 Myelokathexis, isolated (3); WHIM syndrome, 193670 (3), Autosomal dominant +ENSG00000122025 Leukemia, acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3) +ENSG00000122026 Hypotrichosis 12, 615885 (3), Autosomal dominant +ENSG00000122121 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3) +ENSG00000122126 Dent disease 2, 300555 (3), X-linked recessive; Lowe syndrome, 309000 (3), X-linked recessive +ENSG00000122140 Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive +ENSG00000122145 ?Abruzzo-Erickson syndrome, 302905 (3), X-linked; Cleft palate with ankyloglossia, 303400 (3), X-linked +ENSG00000122194 Dysplasminogenemia, 217090 (3), Autosomal recessive; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive +ENSG00000122218 {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3), Autosomal dominant +ENSG00000122223 {Rheumatoid arthritis, susceptibility to}, 180300 (3) +ENSG00000122335 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive +ENSG00000122359 Amytrophic lateral sclerosis 23, 617839 (3), Autosomal dominant +ENSG00000122367 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 24, 601493 (3), Autosomal dominant; Left ventricular noncompaction 3, 601493 (3), Autosomal dominant; Myopathy, myofibrillar, 4, 609452 (3), Autosomal dominant +ENSG00000122406 Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant +ENSG00000122482 Myopia 21, autosomal dominant, 614167 (3), Autosomal dominant +ENSG00000122507 Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive +ENSG00000122512 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3); Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive +ENSG00000122550 Cold-induced sweating syndrome 3, 617055 (3), Autosomal recessive; Retinitis pigmentosa 42, 612943 (3), Autosomal dominant +ENSG00000122566 ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3) +ENSG00000122591 Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive +ENSG00000122643 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive +ENSG00000122691 Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3), Autosomal dominant; Sweeney-Cox syndrome, 617746 (3), Autosomal dominant +ENSG00000122735 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive +ENSG00000122787 Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive +ENSG00000122859 Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive +ENSG00000122861 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; Quebec platelet disorder, 601709 (3), Autosomal dominant +ENSG00000122863 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive +ENSG00000122870 {Renal dysplasia, cystic, susceptibility to}, 601331 (3), Autosomal dominant +ENSG00000122877 Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 1, 605253 (3), Autosomal recessive, Autosomal dominant +ENSG00000122966 Microcephaly 17, primary, autosomal recessive, 617090 (3), Autosomal recessive +ENSG00000122970 Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3), Autosomal recessive +ENSG00000122971 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive +ENSG00000123066 Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3), Autosomal dominant; Transposition of the great arteries, dextro-looped 1, 608808 (3), Autosomal dominant +ENSG00000123095 [Short sleeper], 612975 (3), Autosomal dominant +ENSG00000123104 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive +ENSG00000123191 Wilson disease, 277900 (3), Autosomal recessive +ENSG00000123240 Amyotrophic lateral sclerosis 12, 613435 (3); Glaucoma 1, open angle, E, 137760 (3), Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3) +ENSG00000123297 Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive +ENSG00000123342 Cavitary optic disc anomalies, 611543 (3), Autosomal dominant +ENSG00000123364 Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive +ENSG00000123384 ?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive +ENSG00000123453 [Sarcosinemia], 268900 (3), Autosomal recessive +ENSG00000123454 Dopamine beta-hydroxylase deficiency, 223360 (3), Autosomal recessive; [Dopamine-beta-hydroxylase activity levels, plasma] (3) +ENSG00000123473 Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive +ENSG00000123500 Metaphyseal chondrodysplasia, Schmid type, 156500 (3), Autosomal dominant +ENSG00000123545 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000123560 Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive +ENSG00000123561 [Thyroxine-binding globulin QTL], 300932 (3) +ENSG00000123607 Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive +ENSG00000123700 Andersen syndrome, 170390 (3), Autosomal dominant; Atrial fibrillation, familial, 9, 613980 (3), Autosomal dominant; Short QT syndrome 3, 609622 (3) +ENSG00000123737 Pontocerebellar hypoplasia, type 1D, 618065 (3), Autosomal recessive +ENSG00000123810 Joubert syndrome 34, 614175 (3), Autosomal recessive; ?Meckel syndrome 10, 614175 (3), Autosomal recessive +ENSG00000123815 Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive +ENSG00000124006 3-M syndrome 2, 612921 (3) +ENSG00000124089 {Mycobacterium tuberculosis, protection against}, 607948 (3); {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3) +ENSG00000124140 {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive +ENSG00000124155 Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Autosomal dominant, Somatic mutation +ENSG00000124164 Amyotrophic lateral sclerosis 8, 608627 (3), Autosomal dominant; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3), Autosomal dominant +ENSG00000124172 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3) +ENSG00000124198 Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive +ENSG00000124205 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant; Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant +ENSG00000124212 Hypertension, essential, 145500 (3), Multifactorial +ENSG00000124222 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant +ENSG00000124253 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive +ENSG00000124275 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive +ENSG00000124299 Prolidase deficiency, 170100 (3), Autosomal recessive +ENSG00000124302 ?Peeling skin syndrome 3, 616265 (3), Autosomal recessive +ENSG00000124313 Mental retardation, X-linked 1/78, 309530 (3), X-linked dominant +ENSG00000124356 Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive +ENSG00000124370 Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive +ENSG00000124429 ?Premature ovarian failure 2B, 300604 (3), X-linked recessive +ENSG00000124479 Exudative vitreoretinopathy 2, X-linked, 305390 (3); Norrie disease, 310600 (3), X-linked recessive +ENSG00000124486 Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant +ENSG00000124491 Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant +ENSG00000124564 {Gout susceptibility 4}, 612671 (3), Autosomal dominant; [Uric acid concentration, serum, QTL4], 612671 (3), Autosomal dominant +ENSG00000124570 ?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive +ENSG00000124587 Heimler syndrome 2, 616617 (3), Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive; Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant +ENSG00000124608 Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive +ENSG00000124614 Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant +ENSG00000124615 Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive +ENSG00000124713 Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive +ENSG00000124788 Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant +ENSG00000124813 Cleidocranial dysplasia, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3), Autosomal dominant; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3), Autosomal dominant +ENSG00000124827 Hyperparathyroidism 4, 617343 (3), Autosomal dominant; Hypoparathyroidism, familial isolated, 146200 (3), Autosomal dominant +ENSG00000124920 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3), Autosomal dominant +ENSG00000125084 Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3) +ENSG00000125124 Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive; Retinitis pigmentosa 74, 616562 (3), Autosomal recessive +ENSG00000125255 Bile acid malabsorption, primary, 613291 (3), Autosomal recessive +ENSG00000125347 Gastric cancer, somatic, 613659 (3); Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia, acute (3); Nonsmall cell lung cancer, somatic, 211980 (3) +ENSG00000125351 Mental retardation, X-linked, syndromic 14, 300676 (3), X-linked recessive +ENSG00000125352 ?Trichothiodystrophy 5, nonphotosensitive, 300953 (3), X-linked dominant +ENSG00000125356 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000125363 Amelogenesis imperfecta, type 1E, 301200 (3), X-linked dominant +ENSG00000125378 Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant; Orofacial cleft 11, 600625 (3) +ENSG00000125384 {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive +ENSG00000125398 Acampomelic campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia with autosomal sex reversal, 114290 (3), Autosomal dominant +ENSG00000125414 Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant +ENSG00000125445 ?Combined oxidative phosphorylation deficiency 34, 617872 (3), Autosomal recessive +ENSG00000125454 Microcephaly, Amish type, 607196 (3), Autosomal recessive; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive +ENSG00000125459 Myopathy, mitochondrial, and ataxia, 617675 (3), Autosomal recessive, Autosomal dominant +ENSG00000125505 Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive +ENSG00000125538 {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant +ENSG00000125618 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3), Autosomal dominant +ENSG00000125656 Perrault syndrome 3, 614129 (3), Autosomal recessive +ENSG00000125675 Mental retardation, X-linked 94, 300699 (3), X-linked recessive +ENSG00000125676 Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive +ENSG00000125730 C3 deficiency, 613779 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; {Macular degeneration, age-related, 9}, 611378 (3) +ENSG00000125741 3-methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant +ENSG00000125744 Spastic paraplegia 12, autosomal dominant, 604805 (3), Autosomal dominant +ENSG00000125779 HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive +ENSG00000125780 ?Uncombable hair syndrome 2, 617251 (3), Autosomal recessive +ENSG00000125812 Joint laxity, short stature, and myopia, 617662 (3), Autosomal recessive +ENSG00000125813 ?Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive +ENSG00000125826 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive +ENSG00000125835 Cerebrocostomandibular syndrome, 117650 (3), Autosomal dominant +ENSG00000125845 Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3), Autosomal dominant +ENSG00000125848 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3), Autosomal dominant +ENSG00000125850 Corneal dystrophy, posterior polymorphous, 1, 122000 (3), Autosomal dominant +ENSG00000125863 Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive; McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive +ENSG00000125864 Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant +ENSG00000125871 Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive +ENSG00000125875 Warburg micro syndrome 4, 615663 (3), Autosomal recessive +ENSG00000125877 Epileptic encephalopathy, early infantile, 35, 616647 (3), Autosomal recessive; [Inosine triphosphatase deficiency], 613850 (3) +ENSG00000125885 ?Premature ovarian failure 10, 612885 (3), Autosomal recessive +ENSG00000125952 {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant +ENSG00000125965 ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type C, 113100 (3), Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Du Pan syndrome, 228900 (3), Autosomal recessive; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant; {Osteoarthritis-5}, 612400 (3); Symphalangism, proximal, 1B, 615298 (3) +ENSG00000126012 Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3), X-linked recessive +ENSG00000126088 Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant +ENSG00000126091 ?Epileptic encephalopathy, early infantile, 15, 615006 (3), Autosomal recessive; Mental retardation, autosomal recessive 12, 611090 (3), Autosomal recessive +ENSG00000126215 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 6}, 613972 (3) +ENSG00000126218 Factor X deficiency, 227600 (3), Autosomal recessive +ENSG00000126231 [Protein Z deficiency], 614024 (3) +ENSG00000126233 Meleda disease, 248300 (3), Autosomal recessive +ENSG00000126267 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000126351 Hypothyroidism, congenital, nongoitrous, 6, 614450 (3), Autosomal dominant +ENSG00000126456 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3), Autosomal dominant +ENSG00000126522 Argininosuccinic aciduria, 207900 (3), Autosomal recessive +ENSG00000126524 {Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive +ENSG00000126562 Pseudohypoaldosteronism, type IIB, 614491 (3), Autosomal dominant +ENSG00000126583 Spinocerebellar ataxia 14, 605361 (3), Autosomal dominant +ENSG00000126603 Nephronophthisis 7, 611498 (3) +ENSG00000126705 Xia-Gibbs syndrome, 615829 (3), Autosomal dominant +ENSG00000126749 Bowen-Conradi syndrome, 211180 (3), Autosomal recessive +ENSG00000126752 ?Sarcoma, synovial, 300813 (3) +ENSG00000126759 Properdin deficiency, X-linked, 312060 (3), X-linked recessive +ENSG00000126778 Branchiootic syndrome 3, 608389 (3), Autosomal dominant; Deafness, autosomal dominant 23, 605192 (3), Autosomal dominant +ENSG00000126814 Combined oxidative phosphorylation deficiency 26, 616539 (3), Autosomal recessive +ENSG00000126870 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3), Autosomal recessive +ENSG00000126883 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, somatic, 601626 (3) +ENSG00000126895 Diabetes insipidus, nephrogenic, 304800 (3), X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive +ENSG00000126934 Cardiofaciocutaneous syndrome 4, 615280 (3) +ENSG00000126945 Mental retardation, X-linked, syndromic, Bain type, 300986 (3), X-linked dominant +ENSG00000126953 Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive +ENSG00000126970 Wieacker-Wolff syndrome, 314580 (3), X-linked recessive +ENSG00000127152 Immunodeficiency 49, 617237 (3), Autosomal dominant; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3), Autosomal dominant +ENSG00000127241 3MC syndrome 1, 257920 (3), Autosomal recessive +ENSG00000127415 Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive; Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive +ENSG00000127463 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive +ENSG00000127472 [Fleck retina, familial benign], 228980 (3), Autosomal recessive +ENSG00000127507 Vibratory urticaria, 125630 (3), Autosomal dominant +ENSG00000127554 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) +ENSG00000127616 Coffin-Siris syndrome 4, 614609 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 2}, 613325 (3), Autosomal dominant +ENSG00000127666 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant +ENSG00000127824 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3), Autosomal dominant +ENSG00000127838 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3), Autosomal dominant +ENSG00000127870 Esophageal carcinoma, somatic, 133239 (3) +ENSG00000127884 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive +ENSG00000127914 ?Long QT syndrome-11, 611820 (3), Autosomal dominant +ENSG00000127947 Colon cancer, somatic, 114500 (3) +ENSG00000127948 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) +ENSG00000127980 Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive +ENSG00000127990 Dystonia-11, myoclonic, 159900 (3), Autosomal dominant +ENSG00000128039 Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive; Kahrizi syndrome, 612713 (3), Autosomal recessive +ENSG00000128040 ?Spermatogenic failure 29, 618091 (3), Autosomal recessive +ENSG00000128052 Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant +ENSG00000128159 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive +ENSG00000128274 [Blood group, P1Pk system, P(2) phenotype], 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3) +ENSG00000128322 Agammaglobulinemia 2, 613500 (3), Autosomal recessive +ENSG00000128340 Neutrophil immunodeficiency syndrome, 608203 (3) +ENSG00000128422 Pachyonychia congenita 2, 167210 (3), Autosomal dominant; Steatocystoma multiplex, 184500 (3), Autosomal dominant +ENSG00000128513 {Glioma susceptibility 9}, 616568 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3), Autosomal dominant +ENSG00000128519 [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to}, 617956 (3) +ENSG00000128573 Speech-language disorder-1, 602081 (3), Autosomal dominant +ENSG00000128591 Cardiomyopathy, familial hypertrophic, 26 (3); Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4, 614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant +ENSG00000128602 Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3) +ENSG00000128604 {Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) +ENSG00000128610 Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive +ENSG00000128617 Colorblindness, tritan, 190900 (3), Autosomal dominant +ENSG00000128655 Pigmented nodular adrenocortical disease, primary, 2, 610475 (3), Autosomal dominant +ENSG00000128656 Duane retraction syndrome 2, 604356 (3) +ENSG00000128683 ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3), Autosomal recessive +ENSG00000128710 Charcot-Marie-Tooth disease, foot deformity of, 192950 (3), Autosomal dominant; Vertical talus, congenital, 192950 (3), Autosomal dominant +ENSG00000128714 Brachydactyly, type D, 113200 (3), Autosomal dominant; Brachydactyly, type E, 113300 (3), Autosomal dominant; ?Brachydactyly-syndactyly syndrome, 610713 (3); Syndactyly, type V, 186300 (3), Autosomal dominant; Synpolydactyly 1, 186000 (3), Autosomal dominant +ENSG00000128731 Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive +ENSG00000128739 Prader-Willi syndrome, 176270 (3), Isolated cases +ENSG00000128829 Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive +ENSG00000128881 Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant +ENSG00000128917 Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant +ENSG00000128928 Isovaleric acidemia, 243500 (3), Autosomal recessive +ENSG00000128973 Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3), Autosomal recessive +ENSG00000129003 Parkinson disease 23, autosomal recessive, early onset, 616840 (3), Autosomal recessive +ENSG00000129038 {Exfoliation syndrome, susceptibility to}, 177650 (3), Autosomal dominant +ENSG00000129116 {Pancreatic cancer, susceptibility to, 1}, 606856 (3) +ENSG00000129159 Epilepsy, progressive myoclonic 7, 616187 (3), Autosomal dominant +ENSG00000129170 ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3), Autosomal dominant +ENSG00000129221 Cone-rod dystrophy, 604393 (3), Autosomal recessive; Leber congenital amaurosis 4, 604393 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive +ENSG00000129250 Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive +ENSG00000129255 Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive +ENSG00000129295 Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive +ENSG00000129535 Retinal degeneration, autosomal recessive, clumped pigment type (3); Retinitis pigmentosa 27, 613750 (3), Autosomal dominant +ENSG00000129667 Tylosis with esophageal cancer, 148500 (3), Autosomal dominant +ENSG00000129675 ?Mental retardation, X-linked 46, 300436 (3), X-linked recessive +ENSG00000129696 Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive +ENSG00000129757 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; IMAGE syndrome, 614732 (3), Autosomal dominant +ENSG00000129810 Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive +ENSG00000129910 Mental retardation, autosomal dominant 3, 612580 (3) +ENSG00000129991 Cardiomyopathy, dilated, 1FF, 613286 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant +ENSG00000130005 Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive +ENSG00000130023 ?Periventricular nodular heterotopia 6, 615544 (3), Autosomal dominant +ENSG00000130037 Atrial fibrillation, familial, 7, 612240 (3), Autosomal dominant +ENSG00000130158 Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive +ENSG00000130164 Hypercholesterolemia, familial, 143890 (3), Autosomal dominant; LDL cholesterol level QTL2, 143890 (3), Autosomal dominant +ENSG00000130175 Polycystic liver disease 1, 174050 (3), Autosomal dominant +ENSG00000130203 Alzheimer disease-2, 104310 (3), Autosomal dominant; {Coronary artery disease, severe, susceptibility to}, 617347 (3); Hyperlipoproteinemia, type III, 617347 (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Sea-blue histiocyte disease, 269600 (3), Autosomal recessive +ENSG00000130226 Mental retardation, autosomal dominant 33, 616311 (3); {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3), Autosomal dominant +ENSG00000130294 Mental retardation, autosomal dominant 9, 614255 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal recessive +ENSG00000130299 Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive +ENSG00000130347 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive +ENSG00000130363 Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive +ENSG00000130385 Ovarian dysgenesis 2, 300510 (3), X-linked; Premature ovarian failure 4, 300510 (3), X-linked +ENSG00000130402 Glomerulosclerosis, focal segmental, 1, 603278 (3), Autosomal dominant +ENSG00000130414 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000130427 ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive; Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; {Microvascular complications of diabetes 2}, 612623 (3) +ENSG00000130429 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive +ENSG00000130449 Acromelic frontonasal dysostosis, 603671 (3), Autosomal dominant; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3), Autosomal dominant +ENSG00000130489 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3), Autosomal recessive; Myopia 6, 608908 (3), Autosomal dominant +ENSG00000130508 Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive +ENSG00000130529 Progressive familial heart block, type IB, 604559 (3), Autosomal dominant +ENSG00000130561 Oguchi disease-1, 258100 (3), Autosomal recessive; Retinitis pigmentosa 47, 613758 (3) +ENSG00000130595 Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant +ENSG00000130598 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3), Autosomal dominant +ENSG00000130600 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Silver-Russell syndrome, 180860 (3), Isolated cases; Wilms tumor 2, 194071 (3), Autosomal dominant, Somatic mutation +ENSG00000130635 Ehlers-Danlos syndrome, classic type, 1, 130000 (3), Autosomal dominant +ENSG00000130638 Spinocerebellar ataxia 10, 603516 (3), Autosomal dominant +ENSG00000130675 Currarino syndrome, 176450 (3), Autosomal dominant +ENSG00000130700 Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant +ENSG00000130703 Deafness, autosomal dominant 67, 616340 (3), Autosomal dominant +ENSG00000130707 Citrullinemia, 215700 (3), Autosomal recessive +ENSG00000130711 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive +ENSG00000130713 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3), Autosomal recessive +ENSG00000130714 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive +ENSG00000130741 MEHMO syndrome, 300148 (3), X-linked recessive +ENSG00000130816 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant +ENSG00000130821 Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive +ENSG00000130826 Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive +ENSG00000130921 Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive; Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive +ENSG00000130948 Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive +ENSG00000130985 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive +ENSG00000131018 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive +ENSG00000131055 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive +ENSG00000131089 Epileptic encephalopathy, early infantile, 8, 300607 (3), X-linked recessive +ENSG00000131095 Alexander disease, 203450 (3), Autosomal dominant +ENSG00000131100 Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive +ENSG00000131127 ?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive +ENSG00000131165 Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive +ENSG00000131174 Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-linked dominant +ENSG00000131183 ?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant +ENSG00000131187 Angioedema, hereditary, type III, 610618 (3), Autosomal dominant; Factor XII deficiency, 234000 (3), Autosomal recessive +ENSG00000131238 Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive +ENSG00000131263 Tonne-Kalscheuer syndrome, 300978 (3), X-linked +ENSG00000131269 Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive +ENSG00000131323 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3) +ENSG00000131398 Spinocerebellar ataxia 13, 605259 (3), Autosomal dominant +ENSG00000131435 {Osteoporosis, susceptibility to}, 166710 (3), Autosomal dominant +ENSG00000131462 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3), Autosomal dominant +ENSG00000131469 ?Diamond-Blackfan anemia 16, 617408 (3), Autosomal dominant +ENSG00000131470 Ovarian dysgenesis 3, 614324 (3), Autosomal recessive +ENSG00000131482 Glycogen storage disease Ia, 232200 (3), Autosomal recessive +ENSG00000131495 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000131504 Deafness, autosomal dominant 1, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive +ENSG00000131652 Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive +ENSG00000131697 Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken syndrome 4, 606996 (3), Autosomal recessive +ENSG00000131747 DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) +ENSG00000131779 ?Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive +ENSG00000131808 Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive +ENSG00000131828 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant +ENSG00000131844 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive +ENSG00000131873 Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive +ENSG00000131910 Obesity, mild, early-onset, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000131931 Dystonia 6, torsion, 602629 (3), Autosomal dominant +ENSG00000131943 Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive +ENSG00000131979 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal recessive, Autosomal dominant; Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive +ENSG00000132024 Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive +ENSG00000132031 Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant; {Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, 608728 (3), Autosomal recessive +ENSG00000132153 Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3), Autosomal dominant +ENSG00000132155 Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant; LEOPARD syndrome 2, 611554 (3); Noonan syndrome 5, 611553 (3), Autosomal dominant +ENSG00000132170 Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant; [Obesity, resistance to] (3); Obesity, severe, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000132326 Advanced sleep phase syndrome, familial, 1, 604348 (3), Autosomal dominant +ENSG00000132376 Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive +ENSG00000132386 Osteogenesis imperfecta, type VI, 613982 (3) +ENSG00000132437 Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive +ENSG00000132464 Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant; Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive +ENSG00000132470 Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive +ENSG00000132471 Deafness, autosomal recessive 107, 617639 (3), Autosomal recessive +ENSG00000132517 Riboflavin deficiency, 615026 (3), Autosomal dominant +ENSG00000132518 ?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal recessive; Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive +ENSG00000132549 Cohen syndrome, 216550 (3), Autosomal recessive +ENSG00000132563 ?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal recessive, Autosomal dominant +ENSG00000132591 Perrault syndrome 6, 617565 (3), Autosomal recessive +ENSG00000132600 Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive +ENSG00000132639 ?Myasthenic syndrome, congenital, 18, 616330 (3), Autosomal dominant +ENSG00000132646 ?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive +ENSG00000132669 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive +ENSG00000132716 ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3), Autosomal dominant +ENSG00000132740 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive +ENSG00000132763 Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive +ENSG00000132773 Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive +ENSG00000132781 Adenomas, multiple colorectal, 608456 (3), Autosomal recessive; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3), Somatic mutation; Gastric cancer, somatic, 613659 (3) +ENSG00000132837 Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive +ENSG00000132842 Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive +ENSG00000132855 Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive +ENSG00000132915 Retinitis pigmentosa 43, 613810 (3) +ENSG00000132932 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive +ENSG00000132963 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive; Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant +ENSG00000132965 {Stroke, susceptibility to}, 601367 (3), Multifactorial +ENSG00000133019 ?Prune belly syndrome, 100100 (3), Autosomal recessive +ENSG00000133020 Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3), Autosomal dominant +ENSG00000133028 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000133048 {Asthma-related traits, susceptibility to, 7}, 611960 (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant +ENSG00000133059 Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive +ENSG00000133063 [Chitotriosidase deficiency], 614122 (3), Autosomal recessive +ENSG00000133103 Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive; Shaheen syndrome, 615328 (3), Autosomal recessive +ENSG00000133104 Troyer syndrome, 275900 (3), Autosomal recessive +ENSG00000133111 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive +ENSG00000133116 ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3) +ENSG00000133216 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3) +ENSG00000133256 Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant; Retinitis pigmentosa-40, 613801 (3), Autosomal recessive +ENSG00000133392 Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant +ENSG00000133422 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3), Autosomal dominant +ENSG00000133424 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive +ENSG00000133454 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive +ENSG00000133703 Arteriovenous malformation of the brain, somatic, 108010 (3); Bladder cancer, somatic, 109800 (3); Breast cancer, somatic, 114480 (3); Cardiofaciocutaneous syndrome 2, 615278 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lung cancer, somatic, 211980 (3); Noonan syndrome 3, 609942 (3), Autosomal dominant; Pancreatic carcinoma, somatic, 260350 (3); RAS-associated autoimmune leukoproliferative disorder, 614470 (3), Autosomal dominant; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) +ENSG00000133706 ?Infantile liver failure syndrome 1, 615438 (3), Autosomal recessive +ENSG00000133710 Netherton syndrome, 256500 (3), Autosomal recessive +ENSG00000133731 Mental retardation, autosomal recessive 59, 617323 (3), Autosomal recessive +ENSG00000133805 [AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive +ENSG00000133812 Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive +ENSG00000133818 Ovarian carcinoma (3) +ENSG00000133835 D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive +ENSG00000133863 Spermatogenic failure 25, 617960 (3), Autosomal recessive +ENSG00000133884 Coffin-Siris syndrome 7, 618027 (3), Autosomal dominant +ENSG00000133895 Adrenal adenoma, somatic (3); Angiofibroma, somatic (3); Carcinoid tumor of lung (3); Lipoma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Parathyroid adenoma, somatic (3) +ENSG00000133937 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive +ENSG00000134049 Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive +ENSG00000134086 Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; Hemangioblastoma, cerebellar, somatic (3); Pheochromocytoma, 171300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant +ENSG00000134138 Cleft palate, cardiac defects, and mental retardation, 600987 (3), Autosomal dominant +ENSG00000134160 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) +ENSG00000134183 Achromatopsia 4, 613856 (3) +ENSG00000134200 Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive +ENSG00000134240 HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive +ENSG00000134242 {Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant +ENSG00000134243 [Low density lipoprotein cholesterol level QTL6], 613589 (3), Autosomal dominant +ENSG00000134250 Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney syndrome, 102500 (3), Autosomal dominant +ENSG00000134259 Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive +ENSG00000134262 Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive +ENSG00000134313 Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant +ENSG00000134323 Feingold syndrome 1, 164280 (3), Autosomal dominant +ENSG00000134324 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive +ENSG00000134333 Glycogen storage disease XI, 612933 (3), Autosomal recessive +ENSG00000134343 Dystonia 24, 615034 (3), Autosomal dominant +ENSG00000134371 Hyperparathyroidism, familial primary, 145000 (3), Autosomal dominant; Hyperparathyroidism-jaw tumor syndrome, 145001 (3), Autosomal dominant; Parathyroid adenoma with cystic changes, 145001 (3), Autosomal dominant; Parathyroid carcinoma, 608266 (3) +ENSG00000134376 Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant; Retinitis pigmentosa-12, autosomal recessive, 600105 (3), Autosomal recessive +ENSG00000134389 Nephropathy due to CFHR5 deficiency, 614809 (3), Autosomal dominant +ENSG00000134438 Microphthalmia, isolated 3, 611038 (3), Autosomal recessive +ENSG00000134460 {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3); Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive +ENSG00000134504 Scalp-ear-nipple syndrome, 181270 (3), Autosomal dominant +ENSG00000134516 Immunodeficiency 40, 616433 (3), Autosomal recessive +ENSG00000134532 Lamb-Shaffer syndrome, 616803 (3), Autosomal dominant +ENSG00000134538 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive +ENSG00000134569 Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant +ENSG00000134571 Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant +ENSG00000134574 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive +ENSG00000134595 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked +ENSG00000134640 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000134644 Spinocerebellar ataxia 47, 617931 (3), Autosomal dominant +ENSG00000134684 Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3), Autosomal dominant +ENSG00000134755 Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant +ENSG00000134759 Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive +ENSG00000134760 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive; Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant +ENSG00000134762 ?Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive +ENSG00000134769 Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3), Autosomal dominant +ENSG00000134812 Intrinsic factor deficiency, 261000 (3), Autosomal recessive +ENSG00000134851 Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive +ENSG00000134853 Gastrointestinal stromal tumor, somatic, 606764 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Isolated cases, Somatic mutation +ENSG00000134871 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 2, 614483 (3), Autosomal dominant +ENSG00000134873 HELIX syndrome, 617671 (3), Autosomal recessive +ENSG00000134899 Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive; Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive +ENSG00000134905 Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive +ENSG00000134910 ?Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive +ENSG00000134982 Adenoma, periampullary, somatic (3); Adenomatous polyposis coli, 175100 (3), Autosomal dominant; Brain tumor-polyposis syndrome 2, 175100 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Desmoid disease, hereditary, 135290 (3), Autosomal dominant; Gardner syndrome, 175100 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Hepatoblastoma, somatic, 114550 (3) +ENSG00000134987 Glaucoma 1, open angle, G, 609887 (3) +ENSG00000135069 Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive +ENSG00000135070 Multiple mitochondrial dysfunctions syndrome 5, 617613 (3), Autosomal recessive +ENSG00000135100 Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); MODY, type III, 600496 (3), Autosomal dominant; Renal cell carcinoma, 144700 (3) +ENSG00000135111 Ulnar-mammary syndrome, 181450 (3), Autosomal dominant +ENSG00000135218 {Coronary heart disease, susceptibility to, 7}, 610938 (3); [Macrothrombocytopenia] (1); {Malaria, cerebral, reduced risk of}, 611162 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive +ENSG00000135241 ?Mitochondrial myopathy with lactic acidosis, 251950 (3), Autosomal recessive +ENSG00000135297 Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive +ENSG00000135317 Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive +ENSG00000135318 Calcification of joints and arteries, 211800 (3), Autosomal recessive +ENSG00000135324 {?Obesity, susceptibility to, BMIQ18}, 615457 (3), Autosomal dominant +ENSG00000135338 Leber congenital amaurosis 5, 604537 (3) +ENSG00000135341 Cardiospondylocarpofacial syndrome, 157800 (3), Autosomal dominant; Frontometaphyseal dysplasia 2, 617137 (3), Autosomal dominant +ENSG00000135406 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant +ENSG00000135409 Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive +ENSG00000135424 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive +ENSG00000135437 Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant +ENSG00000135443 Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive +ENSG00000135446 {Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant +ENSG00000135454 Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive +ENSG00000135486 Amyotrophic lateral sclerosis 20, 615426 (3), Autosomal dominant; ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3), Autosomal dominant +ENSG00000135503 Pancreatic cancer, somatic (3) +ENSG00000135517 Cataract 15, multiple types, 615274 (3), Autosomal dominant +ENSG00000135535 ?Deafness, autosomal dominant 66, 616969 (3), Autosomal dominant +ENSG00000135541 Joubert syndrome 3, 608629 (3), Autosomal recessive +ENSG00000135597 ?Neurodegeneration with brain iron accumulation 7, 617916 (3), Autosomal recessive +ENSG00000135604 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive +ENSG00000135636 Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive +ENSG00000135677 Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive +ENSG00000135679 {Accelerated tumor formation, susceptibility to}, 614401 (3) +ENSG00000135697 ?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3), Autosomal dominant +ENSG00000135744 {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive +ENSG00000135766 Erythrocytosis, familial, 3, 609820 (3), Autosomal dominant; [Hemoglobin, high altitude adaptation], 609070 (3), Autosomal dominant +ENSG00000135775 ?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive +ENSG00000135821 Glutamine deficiency, congenital, 610015 (3), Autosomal recessive +ENSG00000135828 Prostate cancer 1, 601518 (3), Autosomal dominant +ENSG00000135845 Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3), Autosomal recessive +ENSG00000135899 Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) +ENSG00000135900 ?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive +ENSG00000135902 Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive +ENSG00000135903 Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Autosomal recessive; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant +ENSG00000135917 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive +ENSG00000135924 Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive +ENSG00000135925 Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive; Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant +ENSG00000135929 Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive +ENSG00000135931 Joubert syndrome 30, 617622 (3), Autosomal recessive +ENSG00000135951 ?Spermatogenic failure 26, 617961 (3), Autosomal recessive +ENSG00000135956 {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant +ENSG00000135960 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive; [Hair morphology 1, hair thickness], 612630 (3) +ENSG00000136003 Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive +ENSG00000136051 ?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive +ENSG00000136068 Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Larsen syndrome, 150250 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive +ENSG00000136104 Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive +ENSG00000136111 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) +ENSG00000136143 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive +ENSG00000136144 Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive +ENSG00000136156 Dementia, familial British, 176500 (3), Autosomal dominant; Dementia, familial Danish, 117300 (3), Autosomal dominant; ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3), Autosomal dominant +ENSG00000136158 {?IgA nephropathy, susceptibility to, 3}, 616818 (3), Autosomal dominant +ENSG00000136159 {Thiopurines, poor metabolism of, 2}, 616903 (3), Autosomal dominant +ENSG00000136160 ABCD syndrome, 600501 (3), Autosomal recessive; {Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant +ENSG00000136235 Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive +ENSG00000136238 Mental retardation, autosomal dominant 48, 617751 (3), Autosomal dominant +ENSG00000136244 {Crohn disease-associated growth failure}, 266600 (3), Multifactorial; {Diabetes, susceptibility to},, 222100 (3), Autosomal recessive; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Autosomal dominant; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant; {Rheumatoid arthritis, systemic juvenile}, 604302 (3) +ENSG00000136280 Cerebral cavernous malformations-2, 603284 (3), Autosomal dominant +ENSG00000136352 Chorea, hereditary benign, 118700 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1}, 188550 (3), Autosomal dominant +ENSG00000136367 ?Marsili syndrome, 147430 (3), Autosomal dominant +ENSG00000136383 Cardiomyopathy, familial hypertrophic 27, 618052 (3), Autosomal recessive +ENSG00000136425 Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive +ENSG00000136463 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000136492 Breast cancer, early-onset, 114480 (3), Autosomal dominant; Fanconi anemia, complementation group J, 609054 (3) +ENSG00000136531 Epileptic encephalopathy, early infantile, 11, 613721 (3), Autosomal dominant; Seizures, benign familial infantile, 3, 607745 (3), Autosomal dominant +ENSG00000136573 Maturity-onset diabetes of the young, type 11, 613375 (3), Autosomal dominant +ENSG00000136574 Atrial septal defect 2, 607941 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies with or without congenital heart disease, 615542 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 1, 614429 (3), Autosomal dominant +ENSG00000136628 Leukodystrophy, hypomyelinating, 15, 617951 (3), Autosomal recessive +ENSG00000136631 Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive +ENSG00000136634 {Graft-versus-host disease, protection against}, 614395 (3); {HIV-1, susceptibility to}, 609423 (3); {Rheumatoid arthritis, progression of}, 180300 (3) +ENSG00000136689 {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive; {Microvascular complications of diabetes 4}, 612628 (3) +ENSG00000136695 Psoriasis 14, pustular, 614204 (3), Autosomal recessive +ENSG00000136698 Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant +ENSG00000136710 Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive +ENSG00000136717 Centronuclear myopathy 2, 255200 (3), Autosomal recessive +ENSG00000136720 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3), Autosomal dominant +ENSG00000136732 [Blood group, Gerbich], 616089 (3); {Malaria, resistance to}, 611162 (3) +ENSG00000136758 ?Optic atrophy 11, 617302 (3), Autosomal recessive +ENSG00000136802 ?Agammaglobulinemia 5, 613506 (3), Autosomal dominant +ENSG00000136827 {Dystonia-1, modifier of} (3); Dystonia-1, torsion, 128100 (3), Autosomal dominant +ENSG00000136854 Epileptic encephalopathy, early infantile, 4, 612164 (3), Autosomal dominant +ENSG00000136861 Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive +ENSG00000136872 Fructose intolerance, hereditary, 229600 (3), Autosomal recessive +ENSG00000136875 Retinitis pigmentosa 70, 615922 (3), Autosomal dominant +ENSG00000136881 Hypercholanemia, familial, 607748 (3) +ENSG00000136908 Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive +ENSG00000136928 Epileptic encephalopathy, early infantile, 59, 617904 (3), Autosomal dominant; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3), Autosomal dominant; {Nicotine dependence, protection against}, 188890 (3); {Nicotine dependence, susceptibility to}, 188890 (3) +ENSG00000136931 Adrenocortical insufficiency, 612964 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant; 46, XX sex reversal 4, 617480 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant +ENSG00000136936 Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive +ENSG00000136944 Nail-patella syndrome, 161200 (3), Autosomal dominant +ENSG00000136997 Burkitt lymphoma, 113970 (3), Isolated cases +ENSG00000137055 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive +ENSG00000137070 Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive +ENSG00000137074 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive +ENSG00000137106 Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive +ENSG00000137161 Epileptic encephalopathy, early infantile, 60, 617929 (3), Autosomal recessive +ENSG00000137203 Branchiooculofacial syndrome, 113620 (3), Autosomal dominant +ENSG00000137265 [Skin/hair/eye pigmentation, variation in, 8], 611724 (3) +ENSG00000137267 Cortical dysplasia, complex, with other brain malformations 5, 615763 (3), Autosomal dominant +ENSG00000137275 Immunodeficiency 57, 618108 (3), Autosomal recessive +ENSG00000137285 Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant +ENSG00000137288 Mitochondrial complex III deficiency, nuclear type 7, 615824 (3), Autosomal recessive +ENSG00000137309 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000137364 {Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive +ENSG00000137411 Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive +ENSG00000137462 {Colorectal cancer, susceptibility to}, 114500 (3), Autosomal dominant; {Leprosy, susceptibility to}, 246300 (3), Autosomal dominant; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) +ENSG00000137474 Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant; Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Usher syndrome, type 1B, 276900 (3), Autosomal recessive +ENSG00000137497 Leukemia, acute promyelocytic, somatic, 612376 (3) +ENSG00000137513 Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive +ENSG00000137561 Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive +ENSG00000137601 {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3); Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Autosomal recessive, Digenic recessive +ENSG00000137672 Glomerulosclerosis, focal segmental, 2, 603965 (3), Autosomal dominant +ENSG00000137674 Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive +ENSG00000137691 Ciliary dyskinesia, primary, 38, 618063 (3), Autosomal recessive +ENSG00000137693 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3), Autosomal dominant +ENSG00000137700 Glycogen storage disease Ib, 232220 (3), Autosomal recessive; Glycogen storage disease Ic, 232240 (3), Autosomal recessive +ENSG00000137710 Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive +ENSG00000137713 Lung cancer, 211980 (3), Autosomal recessive +ENSG00000137731 Hypomagnesemia 2, renal, 154020 (3), Autosomal dominant +ENSG00000137745 Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant +ENSG00000137802 Nephronophthisis 20, 617271 (3), Autosomal recessive +ENSG00000137806 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000137812 Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive +ENSG00000137822 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive +ENSG00000137834 Aortic valve disease 2, 614823 (3), Autosomal dominant; {Craniosynostosis 7, susceptibility to}, 617439 (3), Autosomal dominant +ENSG00000137845 {Alzheimer disease 18, susceptibility to}, 615590 (3); Reticulate acropigmentation of Kitamura, 615537 (3), Autosomal dominant +ENSG00000137868 Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive +ENSG00000137869 Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3), Autosomal dominant +ENSG00000137948 ?Spermatogenic failure 21, 617644 (3), Autosomal recessive +ENSG00000137992 Maple syrup urine disease, type II, 248600 (3), Autosomal recessive +ENSG00000138002 Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive +ENSG00000138029 Trifunctional protein deficiency, 609015 (3), Autosomal recessive +ENSG00000138030 [Fructosuria], 229800 (3), Autosomal recessive +ENSG00000138031 {Obesity, susceptibility to, BMIQ19}, 617885 (3) +ENSG00000138035 Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive; Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive +ENSG00000138036 Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive +ENSG00000138039 Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Precocious puberty, male, 176410 (3), Autosomal dominant +ENSG00000138061 Anterior segment dysgenesis 6, multiple subtypes, 617315 (3); Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive +ENSG00000138075 Sitosterolemia, 210250 (3), Autosomal recessive +ENSG00000138078 Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive +ENSG00000138079 Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant +ENSG00000138081 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3), Autosomal dominant +ENSG00000138083 Holoprosencephaly 2, 157170 (3), Autosomal dominant; Schizencephaly, 269160 (3) +ENSG00000138095 Leigh syndrome, French-Canadian type, 220111 (3), Autosomal recessive +ENSG00000138109 Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3), Autosomal dominant +ENSG00000138115 {Drug metabolism, altered, CYP2C8-related}, 618018 (3) +ENSG00000138138 Hyperekplexia 4, 618011 (3), Autosomal recessive +ENSG00000138160 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3), Autosomal dominant +ENSG00000138180 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3), Autosomal recessive +ENSG00000138185 Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive +ENSG00000138193 Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive +ENSG00000138207 Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive +ENSG00000138303 Barrett esophagus/esophageal adenocarcinoma, 614266 (3); ?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive +ENSG00000138311 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) +ENSG00000138326 Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant +ENSG00000138346 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; ?Seckel syndrome 8, 615807 (3), Autosomal recessive +ENSG00000138347 Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive +ENSG00000138363 AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive +ENSG00000138375 Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive +ENSG00000138376 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant +ENSG00000138378 {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3) +ENSG00000138379 Muscle hypertrophy, 614160 (3) +ENSG00000138411 Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3), Autosomal dominant +ENSG00000138413 {Glioma, susceptibility to, somatic}, 137800 (3) +ENSG00000138435 Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant +ENSG00000138449 Hemochromatosis, type 4, 606069 (3), Autosomal dominant +ENSG00000138592 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3) +ENSG00000138615 {Lumbar disc disease, susceptibility to}, 603932 (3) +ENSG00000138622 Brugada syndrome 8, 613123 (3); Sick sinus syndrome 2, 163800 (3), Autosomal dominant +ENSG00000138623 [Blood group, John-Milton-Hagen system], 614745 (3) +ENSG00000138675 Trichomegaly, 190330 (3), Autosomal recessive +ENSG00000138684 ?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive +ENSG00000138686 Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive +ENSG00000138688 Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive +ENSG00000138696 Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant +ENSG00000138698 Lymphocytic leukemia, acute T-cell (3) +ENSG00000138738 Brittle cornea syndrome 2, 614170 (3), Autosomal recessive +ENSG00000138741 ?Spinocerebellar ataxia 41, 616410 (3), Autosomal dominant +ENSG00000138759 Fraser syndrome 1, 219000 (3), Autosomal recessive +ENSG00000138760 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive +ENSG00000138777 ?Sudden cardiac failure, alcohol-induced, 617223 (3), Autosomal recessive; Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive +ENSG00000138778 ?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive +ENSG00000138795 Sebaceous tumors, somatic (3) +ENSG00000138796 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive +ENSG00000138798 Hypomagnesemia 4, renal, 611718 (3) +ENSG00000138814 Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3), Autosomal dominant +ENSG00000138821 Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive +ENSG00000138823 Abetalipoproteinemia, 200100 (3), Autosomal recessive; {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant +ENSG00000138829 Contractural arachnodactyly, congenital, 121050 (3), Autosomal dominant; Macular degeneration, early-onset, 616118 (3), Autosomal dominant +ENSG00000139053 Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant; Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant +ENSG00000139083 Leukemia, acute myeloid, somatic, 601626 (3); Thrombocytopenia 5, 616216 (3), Autosomal dominant +ENSG00000139116 Fibrosis of extraocular muscles, congenital, 1, 135700 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3B, 135700 (3), Autosomal dominant +ENSG00000139131 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive +ENSG00000139132 Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive +ENSG00000139133 {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3), Autosomal dominant +ENSG00000139151 ?Spermatogenic failure 17, 617214 (3), Autosomal recessive +ENSG00000139174 Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive +ENSG00000139180 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000139190 Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant +ENSG00000139193 Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive +ENSG00000139197 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive; Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive +ENSG00000139219 Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Legg-Calve-Perthes disease, 150600 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; SED congenita, 183900 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; Stickler sydrome, type I, nonsyndromic ocular, 609508 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) +ENSG00000139287 {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3); {Unipolar depression, susceptibility to}, 608516 (3) +ENSG00000139304 Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive +ENSG00000139318 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3), Autosomal dominant +ENSG00000139323 Cone-rod dystrophy 20, 615973 (3), Autosomal recessive +ENSG00000139324 Lissencephaly 8, 617255 (3), Autosomal recessive +ENSG00000139330 Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive +ENSG00000139351 Pregnancy loss, recurrent, 4, 270960 (3), Autosomal dominant; Spermatogenic failure 4, 270960 (3), Autosomal dominant +ENSG00000139352 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; Haddad syndrome, 209880 (3), Autosomal dominant +ENSG00000139428 Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3), Autosomal recessive +ENSG00000139515 {Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; MODY, type IV, 606392 (3); Pancreatic agenesis 1, 260370 (3), Autosomal recessive +ENSG00000139531 Sulfite oxidase deficiency, 272300 (3), Autosomal recessive +ENSG00000139537 Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive +ENSG00000139540 Myopia 24, autosomal dominant, 615946 (3), Autosomal dominant +ENSG00000139549 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3); 46XY sex reversal 7, 233420 (3), Autosomal recessive +ENSG00000139567 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal dominant +ENSG00000139618 {Breast cancer, male, susceptibility to}, 114480 (3), Autosomal dominant; {Breast-ovarian cancer, familial, 2}, 612555 (3), Autosomal dominant; Fanconi anemia, complementation group D1, 605724 (3), Autosomal recessive; {Glioblastoma 3}, 613029 (3), Autosomal recessive; {Medulloblastoma}, 155255 (3), Autosomal recessive, Autosomal dominant; {Pancreatic cancer 2}, 613347 (3); {Prostate cancer}, 176807 (3), Autosomal dominant; Wilms tumor, 194070 (3), Autosomal dominant, Somatic mutation +ENSG00000139648 ?Hypotrichosis 13, 615896 (3), Autosomal dominant +ENSG00000139679 Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive +ENSG00000139687 Bladder cancer, somatic, 109800 (3); Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Autosomal dominant, Somatic mutation; Retinoblastoma, trilateral, 180200 (3), Autosomal dominant, Somatic mutation; Small cell cancer of the lung, somatic, 182280 (3) +ENSG00000139719 Mucopolysaccharidosis-plus syndrome, 617303 (3), Autosomal recessive +ENSG00000139734 Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal dominant +ENSG00000139988 Leber congenital amaurosis 13, 612712 (3), Autosomal recessive, Autosomal dominant +ENSG00000140057 ?Spermatogenic failure 27, 617965 (3), Autosomal recessive +ENSG00000140090 Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive +ENSG00000140092 Cutis laxa, autosomal dominant 2, 614434 (3); Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive; Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant +ENSG00000140105 Neuronopathy, distal hereditary motor, type IX, 617721 (3) +ENSG00000140199 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive +ENSG00000140262 Craniosynostosis 3, 615314 (3), Autosomal dominant +ENSG00000140274 Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive +ENSG00000140279 Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive +ENSG00000140287 {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3), Autosomal dominant +ENSG00000140326 Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive +ENSG00000140368 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3), Autosomal dominant +ENSG00000140374 Glutaric acidemia IIA, 231680 (3), Autosomal recessive +ENSG00000140416 Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Left ventricular noncompaction 9, 611878 (3), Autosomal dominant +ENSG00000140443 Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant +ENSG00000140459 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) +ENSG00000140463 Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive +ENSG00000140464 Leukemia, acute promyelocytic, PML/RARA type (3) +ENSG00000140470 Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive +ENSG00000140471 Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive +ENSG00000140521 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive +ENSG00000140522 Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant; Newfoundland rod-cone dystrophy, 607476 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant +ENSG00000140525 Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive +ENSG00000140598 Shwachman-Diamond syndrome 2, 617941 (3), Autosomal recessive +ENSG00000140623 Spermatogenic failure 10, 614822 (3), Autosomal dominant +ENSG00000140650 Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive +ENSG00000140675 Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant +ENSG00000140691 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3), Autosomal dominant, Somatic mutation +ENSG00000140694 Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant +ENSG00000140718 Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive +ENSG00000140740 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive +ENSG00000140836 {Prostate cancer, susceptibility to, somatic}, 176807 (3) +ENSG00000140854 Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive +ENSG00000140873 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive +ENSG00000140905 ?Glycine encephalopathy, 605899 (3), Autosomal recessive +ENSG00000140937 Elsahy-Waters syndrome, 211380 (3), Autosomal recessive +ENSG00000140939 Myoclonus, familial cortical, 614937 (3), Autosomal dominant +ENSG00000140968 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive +ENSG00000141012 Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive +ENSG00000141013 Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive +ENSG00000141161 ?Cataract 43, 616279 (3), Autosomal dominant +ENSG00000141252 Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive +ENSG00000141337 Usher syndrome, type IV, 618144 (3) +ENSG00000141349 Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive +ENSG00000141367 Mental retardation, autosomal dominant 56, 617854 (3) +ENSG00000141378 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive +ENSG00000141384 ?Spermatogenic failure 13, 615841 (3), Autosomal recessive +ENSG00000141385 Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant +ENSG00000141404 Dystonia 25, 615073 (3), Autosomal dominant +ENSG00000141431 Bainbridge-Ropers syndrome, 615485 (3), Autosomal dominant +ENSG00000141448 Atrial septal defect 9, 614475 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Pancreatic agenesis and congenital heart defects, 600001 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant +ENSG00000141449 Renal hypodysplasia/aplasia 3, 617805 (3), Autosomal dominant +ENSG00000141458 Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive; Niemann-Pick disease, type D, 257220 (3), Autosomal recessive +ENSG00000141469 [Blood group, Kidd], 111000 (3) +ENSG00000141485 Epileptic encephalopathy, early infantile, 25, 615905 (3), Autosomal recessive +ENSG00000141497 ?Spermatogenic failure 14, 615842 (3), Autosomal recessive +ENSG00000141499 Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive +ENSG00000141506 Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive +ENSG00000141510 Adrenal cortical carcinoma, 202300 (3), Autosomal recessive; {Basal cell carcinoma 7}, 614740 (3); Breast cancer, 114480 (3), Autosomal dominant; Choroid plexus papilloma, 260500 (3), Autosomal dominant; Colorectal cancer, 114500 (3), Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Autosomal dominant, Somatic mutation; Hepatocellular carcinoma, 114550 (3), Somatic mutation; Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Nasopharyngeal carcinoma, 607107 (3); Osteosarcoma, 259500 (3), Autosomal recessive; Pancreatic cancer, 260350 (3), Autosomal dominant, Somatic mutation, Multifactorial +ENSG00000141519 Ciliary dyskinesia, primary, 15, 613808 (3) +ENSG00000141522 Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive +ENSG00000141524 Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive +ENSG00000141527 Pityriasis rubra pilaris, 173200 (3), Autosomal dominant; Psoriasis 2, 602723 (3), Autosomal dominant +ENSG00000141543 Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive +ENSG00000141551 Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal dominant +ENSG00000141556 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive +ENSG00000141579 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) +ENSG00000141580 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive +ENSG00000141627 Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive; Smith-McCort dysplasia, 607326 (3), Autosomal recessive +ENSG00000141646 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant; Myhre syndrome, 139210 (3), Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant +ENSG00000141655 Osteolysis, familial expansile, 174810 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant +ENSG00000141736 Adenocarcinoma of lung, somatic, 211980 (3); Gastric cancer, somatic, 613659 (3); Glioblastoma, somatic, 137800 (3); Ovarian cancer, somatic (3) +ENSG00000141756 Bruck syndrome 1, 259450 (3), Autosomal recessive; Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive +ENSG00000141759 Burn-McKeown syndrome, 608572 (3), Autosomal recessive +ENSG00000141837 Epileptic encephalopathy, early infantile, 42, 617106 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant +ENSG00000142089 {Influenza, severe, susceptibility to}, 614680 (3) +ENSG00000142156 Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant +ENSG00000142168 Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant +ENSG00000142173 Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant +ENSG00000142178 Epileptic encephalopathy, early infantile, 30, 616341 (3), Autosomal dominant +ENSG00000142186 Spinocerebellar ataxia, autosomal recessive 21, 616719 (3), Autosomal recessive +ENSG00000142192 Alzheimer disease 1, familial, 104300 (3), Autosomal dominant; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3), Autosomal dominant +ENSG00000142208 Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Cowden syndrome 6, 615109 (3); Ovarian cancer, somatic, 167000 (3); Proteus syndrome, somatic, 176920 (3); {Schizophrenia, susceptibility to}, 181500 (2), Autosomal dominant +ENSG00000142303 Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive +ENSG00000142319 {Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive +ENSG00000142330 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) +ENSG00000142405 Familial cold autoinflammatory syndrome 2, 611762 (3), Autosomal dominant +ENSG00000142513 Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal recessive +ENSG00000142599 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3), Autosomal dominant +ENSG00000142611 Cardiomyopathy, dilated, 1LL, 615373 (3), Autosomal dominant; Left ventricular noncompaction 8, 615373 (3), Autosomal dominant +ENSG00000142619 Uncombable hair syndrome, 191480 (3), Autosomal recessive +ENSG00000142627 Cataract 6, multiple types, 116600 (3), Autosomal dominant +ENSG00000142655 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive +ENSG00000142676 Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant +ENSG00000142731 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive +ENSG00000142748 Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive +ENSG00000142798 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive +ENSG00000142867 ?Immunodeficiency 37, 616098 (3), Autosomal recessive; Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic},, 273300 (3); {Mesothelioma, somatic}, 156240 (3); {Sezary syndrome, somatic} (3) +ENSG00000142949 ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive +ENSG00000143061 ?Lacrimal duct defect, 149700 (3), Autosomal recessive +ENSG00000143178 Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive +ENSG00000143183 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive +ENSG00000143199 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3), Autosomal dominant +ENSG00000143217 Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive +ENSG00000143222 Neurodevelopmental disorder with spasticity and poor growth, 618076 (3), Autosomal recessive +ENSG00000143224 Porphyria variegata, 176200 (3), Autosomal dominant +ENSG00000143226 {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive +ENSG00000143252 Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 3, 605373 (3), Autosomal dominant +ENSG00000143278 Factor XIIIB deficiency, 613235 (3), Autosomal recessive +ENSG00000143294 Renal cell carcinoma, papillary, 605074 (3) +ENSG00000143315 Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive +ENSG00000143318 Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3), Autosomal dominant +ENSG00000143324 Basal ganglia calcification, idiopathic, 6, 616413 (3), Autosomal dominant +ENSG00000143337 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive +ENSG00000143341 {Macular degeneration, age-related, 1}, 603075 (3), Autosomal dominant +ENSG00000143363 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive +ENSG00000143365 Immunodeficiency 42, 616622 (3), Autosomal recessive +ENSG00000143368 Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant +ENSG00000143369 Urbach-Wiethe disease, 247100 (3), Autosomal recessive +ENSG00000143373 Paget disease of bone 6, 616833 (3), Autosomal dominant +ENSG00000143374 ?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive +ENSG00000143382 Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive +ENSG00000143387 Pycnodysostosis, 265800 (3), Autosomal recessive +ENSG00000143390 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive +ENSG00000143416 Extraoral halitosis due to MTO deficiency, 618148 (3) +ENSG00000143442 White-Sutton syndrome, 616364 (3), Autosomal dominant +ENSG00000143469 ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive +ENSG00000143473 Temple-Baraitser syndrome, 611816 (3), Autosomal dominant; Zimmermann-Laband syndrome 1, 135500 (3), Autosomal dominant +ENSG00000143520 Peeling skin syndrome 6, 618084 (3), Autosomal recessive +ENSG00000143549 CAP myopathy 1, 609284 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal recessive, Autosomal dominant +ENSG00000143575 Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive +ENSG00000143614 Mental retardation, autosomal dominant 18, 615074 (3), Autosomal dominant +ENSG00000143622 Noonan syndrome 8, 615355 (3), Autosomal dominant +ENSG00000143627 Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant; Pyruvate kinase deficiency, 266200 (3), Autosomal recessive +ENSG00000143631 {Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal dominant +ENSG00000143632 Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant +ENSG00000143669 Chediak-Higashi syndrome, 214500 (3), Autosomal recessive +ENSG00000143801 Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy, dilated, 1V, 613697 (3), Autosomal dominant +ENSG00000143811 Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive +ENSG00000143815 Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; Pelger-Huet anomaly, 169400 (3), Autosomal dominant; Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3); ?Reynolds syndrome, 613471 (3), Autosomal dominant +ENSG00000143819 ?Hypercholanemia, familial, 607748 (3) +ENSG00000143839 [Hyperproreninemia] (3); Hyperuricemic nephropathy, familial juvenile 2, 613092 (3), Autosomal dominant; Renal tubular dysgenesis, 267430 (3), Autosomal recessive +ENSG00000143858 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3), Autosomal dominant +ENSG00000143921 {Gallbladder disease 4}, 611465 (3); Sitosterolemia, 210250 (3), Autosomal recessive +ENSG00000143933 Long QT syndrome 15, 616249 (3), Autosomal dominant +ENSG00000143951 ?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive +ENSG00000143970 Shashi-Pena syndrome, 617190 (3), Autosomal dominant +ENSG00000144028 Retinitis pigmentosa 33, 610359 (3), Autosomal dominant +ENSG00000144034 Galloway-Mowat syndrome 5, 617731 (3), Autosomal recessive +ENSG00000144061 Joubert syndrome 4, 609583 (3), Autosomal recessive; Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive +ENSG00000144182 Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive +ENSG00000144191 Achromatopsia 2, 216900 (3), Autosomal recessive +ENSG00000144285 Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3), Autosomal dominant; Febrile seizures, familial, 3A, 604403 (3), Autosomal dominant; Migraine, familial hemiplegic, 3, 609634 (3), Autosomal dominant +ENSG00000144320 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3), Autosomal recessive +ENSG00000144354 Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3), Autosomal recessive +ENSG00000144381 Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive; Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant +ENSG00000144406 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive +ENSG00000144452 Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive +ENSG00000144455 Multiple sulfatase deficiency, 272200 (3), Autosomal recessive +ENSG00000144535 Perlman syndrome, 267000 (3), Autosomal recessive +ENSG00000144554 Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive +ENSG00000144591 Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive +ENSG00000144647 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive +ENSG00000144659 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive +ENSG00000144730 Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Autosomal recessive, Autosomal dominant +ENSG00000144741 Combined oxidative phosphorylation deficiency 28, 616794 (3), Autosomal recessive +ENSG00000144891 {Hypertension, essential}, 145500 (3), Multifactorial; Renal tubular dysgenesis, 267430 (3), Autosomal recessive +ENSG00000144962 ?Spermatogenic failure 6, 102530 (3), Autosomal recessive +ENSG00000145012 Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Lipoma (3) +ENSG00000145016 ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive +ENSG00000145020 Glycine encephalopathy, 605899 (3), Autosomal recessive +ENSG00000145103 Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive +ENSG00000145191 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive +ENSG00000145192 ?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive +ENSG00000145217 ?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive +ENSG00000145244 Preeclampsia/eclampsia 5, 614595 (3) +ENSG00000145331 Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive +ENSG00000145335 Dementia, Lewy body, 127750 (3), Autosomal dominant; Parkinson disease 1, 168601 (3), Autosomal dominant; Parkinson disease 4, 605543 (3), Autosomal dominant +ENSG00000145348 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive +ENSG00000145354 Wolfram syndrome 2, 604928 (3), Autosomal recessive +ENSG00000145362 Cardiac arrhythmia, ankyrin-B-related, 600919 (3), Autosomal dominant; Long QT syndrome 4, 600919 (3), Autosomal dominant +ENSG00000145375 Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive +ENSG00000145476 Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive +ENSG00000145494 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000145623 Amyloidosis, primary localized cutaneous, 1, 105250 (3), Autosomal dominant +ENSG00000145675 ?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; Immunodeficiency 36, 616005 (3), Autosomal dominant; SHORT syndrome, 269880 (3), Autosomal dominant +ENSG00000145715 Basal cell carcinoma, somatic, 605462 (3); Capillary malformation-arteriovenous malformation, 608354 (3), Autosomal dominant; Parkes Weber syndrome, 608355 (3), Autosomal dominant +ENSG00000145794 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive +ENSG00000145819 Leukemia, juvenile myelomonocytic, somatic, 607785 (3) +ENSG00000145864 Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3), Autosomal dominant +ENSG00000145868 Neuronopathy, distal hereditary motor, type IID, 615575 (3), Autosomal dominant +ENSG00000145888 Hyperekplexia 1, 149400 (3), Autosomal recessive, Autosomal dominant +ENSG00000145912 Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive +ENSG00000145936 {Hypertension, diastolic, resistance to}, 608622 (3), Autosomal dominant +ENSG00000145979 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive +ENSG00000145982 Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive; Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive +ENSG00000146021 Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant +ENSG00000146038 ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive; Nephronophthisis 19, 616217 (3), Autosomal recessive; Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive +ENSG00000146070 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant; Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive +ENSG00000146085 Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive +ENSG00000146247 Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3), Autosomal dominant +ENSG00000146282 Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive +ENSG00000146648 Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Autosomal recessive; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Autosomal recessive +ENSG00000146701 Epileptic encephalopathy, early infantile, 51, 617339 (3), Autosomal recessive +ENSG00000146733 Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive +ENSG00000146872 Mental retardation, autosomal dominant 57, 618050 (3), Autosomal dominant +ENSG00000146926 Glaucoma 1, open angle, F, 603383 (3) +ENSG00000146938 {Asperger syndrome susceptibility, X-linked 2}, 300497 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 2}, 300495 (3), Isolated cases, X-linked, Multifactorial; Mental retardation, X-linked, 300495 (3), Isolated cases, X-linked, Multifactorial +ENSG00000147044 FG syndrome 4, 300422 (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; Mental retardation, with or without nystagmus, 300422 (3) +ENSG00000147050 Kabuki syndrome 2, 300867 (3), X-linked dominant +ENSG00000147065 Immunodeficiency 50, 300988 (3), X-linked recessive +ENSG00000147099 Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant +ENSG00000147100 Allan-Herndon-Dudley syndrome, 300523 (3), X-linked +ENSG00000147123 Linear skin defects with multiple congenital anomalies 3, 300952 (3), X-linked dominant; ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000147133 Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive; Mental retardation, X-linked, syndromic 33, 300966 (3), X-linked recessive +ENSG00000147140 Mental retardation, X-linked, syndromic 34, 300967 (3), X-linked +ENSG00000147155 Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant; MEND syndrome, 300960 (3), X-linked recessive +ENSG00000147162 Mental retardation, X-linked 106, 300997 (3), X-linked recessive +ENSG00000147168 Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive; Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive +ENSG00000147180 Mental retardation, X-linked 97, 300803 (3), X-linked +ENSG00000147202 ?Premature ovarian failure 2A, 300511 (3), X-linked dominant +ENSG00000147224 Arts syndrome, 301835 (3), X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Gout, PRPS-related, 300661 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive +ENSG00000147255 Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive +ENSG00000147257 Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive; Wilms tumor, somatic, 194070 (3) +ENSG00000147274 ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3), X-linked recessive +ENSG00000147316 Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive +ENSG00000147383 CHILD syndrome, 308050 (3), X-linked dominant; CK syndrome, 300831 (3), X-linked recessive +ENSG00000147403 {Autism, susceptibility to, X-linked 5}, 300847 (3); Mental retardation, X-linked, syndromic, 35, 300998 (3), X-linked recessive +ENSG00000147416 Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3), Autosomal dominant; Zimmermann-Laband syndrome 2, 616455 (3), Autosomal dominant +ENSG00000147437 ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive +ENSG00000147465 Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive +ENSG00000147471 Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive +ENSG00000147475 Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive +ENSG00000147548 Leukemia, acute myeloid, 601626 (3), Autosomal dominant +ENSG00000147647 Dihydropyrimidinuria, 222748 (3), Autosomal recessive +ENSG00000147655 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3), Autosomal recessive; Tetraamelia syndrome 2, 618021 (3), Autosomal recessive +ENSG00000147684 ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000147804 Acrodermatitis enteropathica, 201100 (3), Autosomal recessive +ENSG00000147852 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive +ENSG00000147889 Melanoma and neural system tumor syndrome, 155755 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 2}, 155601 (3), Autosomal dominant; Orolaryngeal cancer, multiple (3); Pancreatic cancer/melanoma syndrome, 606719 (3), Autosomal dominant +ENSG00000147894 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3), Autosomal dominant +ENSG00000147955 ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive +ENSG00000148019 Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive +ENSG00000148053 Epileptic encephalopathy, early infantile, 58, 617830 (3), Autosomal dominant; Obesity, hyperphagia, and developmental delay, 613886 (3), Autosomal dominant +ENSG00000148090 3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive +ENSG00000148180 Amyloidosis, Finnish type, 105120 (3), Autosomal dominant +ENSG00000148204 Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive; Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive +ENSG00000148218 {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive; Porphyria, acute hepatic, 612740 (3), Autosomal recessive +ENSG00000148290 Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive; Leigh syndrome, due to COX IV deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000148356 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant +ENSG00000148384 Joubert syndrome 1, 213300 (3), Autosomal recessive; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3), Autosomal recessive +ENSG00000148400 Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve disease 1, 109730 (3), Autosomal dominant +ENSG00000148408 ?Dystonia 23, 614860 (3), Autosomal dominant +ENSG00000148459 Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive +ENSG00000148516 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3); Corneal dystrophy, posterior polymorphous, 3, 609141 (3) +ENSG00000148600 Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive +ENSG00000148604 Retinitis pigmentosa 44, 613769 (3) +ENSG00000148606 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive +ENSG00000148655 Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive +ENSG00000148672 Hyperinsulinism-hyperammonemia syndrome, 606762 (3), Autosomal dominant +ENSG00000148700 Cerebral palsy, spastic quadriplegic, 3, 617008 (3), Autosomal recessive +ENSG00000148702 {?Thyroid cancer, nonmedullary, 5}, 616535 (3), Autosomal dominant; {Venous thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant +ENSG00000148704 ?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive +ENSG00000148737 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000148795 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive; 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive +ENSG00000148826 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3), Autosomal recessive +ENSG00000148842 Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal recessive, Autosomal dominant +ENSG00000148985 Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive +ENSG00000149131 Angioedema, hereditary, types I and II, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant +ENSG00000149177 Colon cancer, somatic, 114500 (3) +ENSG00000149196 Leukodystrophy, hypomyelinating, 13, 616881 (3), Autosomal recessive +ENSG00000149256 Essential tremor, hereditary, 5, 616736 (3), Autosomal dominant +ENSG00000149257 Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive; {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) +ENSG00000149260 Vitreoretinopathy, neovascular inflammatory, 193235 (3), Autosomal dominant +ENSG00000149311 Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Lymphoma, B-cell non-Hodgkin, somatic (3); Lymphoma, mantle cell, somatic (3); T-cell prolymphocytic leukemia, somatic (3) +ENSG00000149418 Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive +ENSG00000149483 Joubert syndrome 16, 614465 (3), Autosomal recessive +ENSG00000149489 Retinitis pigmentosa 7, digenic form, 608133 (3), Autosomal recessive, Autosomal dominant +ENSG00000149506 Oocyte maturation defect 1, 615774 (3), Autosomal recessive +ENSG00000149534 {Atopy, susceptibility to}, 147050 (3), Autosomal dominant +ENSG00000149541 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive +ENSG00000149573 Deafness, autosomal recessive 111, 618145 (3) +ENSG00000149575 Atrial fibrillation, familial, 14, 615378 (3), Autosomal dominant +ENSG00000149596 Cardiomyopathy, hypertrophic, 17, 613873 (3), Autosomal dominant +ENSG00000149781 Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive +ENSG00000149922 Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant +ENSG00000149925 Glycogen storage disease XII, 611881 (3), Autosomal recessive +ENSG00000149968 {Coronary heart disease, susceptibility to, 6}, 614466 (3) +ENSG00000149970 Mental retardation, X-linked, syndromic, Houge type, 301008 (3), X-linked +ENSG00000150275 Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Autosomal recessive, Digenic recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive +ENSG00000150337 [IgG receptor I, phagocytic, familial deficiency of] (3) +ENSG00000150455 {Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Pneumococcal disease, invasive, protection against}, 610799 (3); {Tuberculosis, protection against}, 607948 (3) +ENSG00000150540 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive +ENSG00000150630 Lymphedema, hereditary, ID, 615907 (3), Autosomal dominant +ENSG00000150753 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive +ENSG00000150768 Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive +ENSG00000150787 Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive +ENSG00000150893 Fraser syndrome 2, 617666 (3), Autosomal recessive +ENSG00000150907 Rhabdomyosarcoma, alveolar, 268220 (3), Autosomal recessive +ENSG00000150961 Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive +ENSG00000150995 Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant +ENSG00000151062 Retinal cone dystrophy 4, 610478 (3), Autosomal recessive +ENSG00000151067 Brugada syndrome 3, 611875 (3); Timothy syndrome, 601005 (3), Autosomal dominant +ENSG00000151090 Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant +ENSG00000151092 Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive +ENSG00000151148 Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive +ENSG00000151150 ?Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive +ENSG00000151224 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant +ENSG00000151247 {Autism, susceptibility to, 19}, 615091 (3) +ENSG00000151348 Exostoses, multiple, type 2, 133701 (3), Autosomal dominant; ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive +ENSG00000151413 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000151445 Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive +ENSG00000151474 ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive +ENSG00000151490 Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive +ENSG00000151491 ?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive +ENSG00000151498 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3) +ENSG00000151503 Microcephaly 22, primary, autosomal recessive, 617984 (3), Autosomal recessive +ENSG00000151552 Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive +ENSG00000151577 {Essential tremor, hereditary, 1}, 190300 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant +ENSG00000151611 Methylmalonic aciduria, vitamin B12-responsive, 251100 (3), Autosomal recessive +ENSG00000151617 Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal dominant; {Migraine, resistance to}, 157300 (3), Autosomal dominant +ENSG00000151623 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3); Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3), Autosomal dominant +ENSG00000151632 46XY sex reversal 8, 614279 (3), Autosomal recessive +ENSG00000151694 ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive +ENSG00000151702 Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant +ENSG00000151704 Bartter syndrome, type 2, 241200 (3), Autosomal recessive +ENSG00000151729 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant +ENSG00000151779 Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive +ENSG00000151790 [?Hypertryptophanemia], 600627 (3), Autosomal recessive +ENSG00000151806 ?Epileptic encephalopathy, early infantile, 40, 617065 (3), Autosomal recessive +ENSG00000151834 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial +ENSG00000151835 Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive +ENSG00000151849 Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive +ENSG00000151914 Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive; ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive +ENSG00000151929 Cardiomyopathy, dilated, 1HH, 613881 (3), Autosomal dominant; Myopathy, myofibrillar, 6, 612954 (3), Autosomal dominant +ENSG00000152056 {Psoriasis 15, pustular, susceptibility to}, 616106 (3), Autosomal dominant +ENSG00000152104 ?Choanal atresia and lymphedema, 613611 (3), Autosomal recessive +ENSG00000152137 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type IIA, 158590 (3), Autosomal dominant +ENSG00000152208 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive +ENSG00000152217 Mental retardation, autosomal dominant 29, 616078 (3), Autosomal dominant; Schinzel-Giedion midface retraction syndrome, 269150 (3), Autosomal dominant +ENSG00000152223 Vici syndrome, 242840 (3), Autosomal recessive +ENSG00000152234 ?Combined oxidative phosphorylation deficiency 22, 616045 (3), Autosomal recessive; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3), Autosomal recessive +ENSG00000152266 Hypoparathyroidism, autosomal dominant, 146200 (3), Autosomal dominant; Hypoparathyroidism, autosomal recessive, 146200 (3), Autosomal dominant +ENSG00000152422 Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive +ENSG00000152457 Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive +ENSG00000152492 ?Deafness, autosomal dominant 44, 607453 (3), Autosomal dominant +ENSG00000152503 ?Anencephaly, 206500 (3), Autosomal recessive +ENSG00000152556 Glycogen storage disease VII, 232800 (3), Autosomal recessive +ENSG00000152578 Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3), Autosomal dominant +ENSG00000152591 Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3), Autosomal dominant; Dentin dysplasia, type II, 125420 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type II, 125490 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type III, 125500 (3), Autosomal dominant +ENSG00000152592 Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive +ENSG00000152620 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive +ENSG00000152642 Brugada syndrome 2, 611777 (3) +ENSG00000152661 Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant +ENSG00000152669 Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive +ENSG00000152700 Chylomicron retention disease, 246700 (3), Autosomal recessive +ENSG00000152779 Cataract 47, juvenile, with microcornea, 612018 (3), Autosomal dominant +ENSG00000152784 ?Epilepsy, progressive myoclonic, 10, 616640 (3), Autosomal recessive +ENSG00000152795 Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3), Autosomal dominant +ENSG00000152822 Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive +ENSG00000152939 Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive +ENSG00000152952 Bruck syndrome 2, 609220 (3), Autosomal recessive +ENSG00000152977 Craniosynostosis 6, 616602 (3), Autosomal dominant +ENSG00000153015 Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive +ENSG00000153113 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive +ENSG00000153187 Epileptic encephalopathy, early infantile, 54, 617391 (3), Autosomal dominant +ENSG00000153201 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3), Autosomal dominant +ENSG00000153208 Retinitis pigmentosa 38, 613862 (3), Autosomal recessive +ENSG00000153253 Epilepsy, familial focal, with variable foci 4, 617935 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 62, 617938 (3), Autosomal dominant +ENSG00000153283 C syndrome, 211750 (3), Autosomal dominant +ENSG00000153487 Squamous cell carcinoma, head and neck, somatic, 275355 (3) +ENSG00000153563 CD8 deficiency, familial, 608957 (3), Autosomal recessive +ENSG00000153574 ?Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive +ENSG00000153827 Mental retardation, autosomal dominant 49, 617752 (3), Autosomal dominant +ENSG00000153902 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive +ENSG00000153922 Pilarowski-Bjornsson syndrome, 617682 (3), Autosomal dominant +ENSG00000153933 {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive +ENSG00000153989 ?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive; Mental retardation, autosomal dominant 55, with seizures, 617831 (3), Autosomal dominant +ENSG00000154099 Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive +ENSG00000154118 Huntington disease-like 2, 606438 (3), Autosomal dominant +ENSG00000154122 Chondrocalcinosis 2, 118600 (3), Autosomal dominant; Craniometaphyseal dysplasia, 123000 (3), Autosomal dominant +ENSG00000154124 Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3), Autosomal recessive +ENSG00000154134 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive +ENSG00000154153 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive +ENSG00000154227 Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive +ENSG00000154229 Pituitary tumor, invasive (3) +ENSG00000154277 {?Parkinson disease 5, susceptibility to}, 613643 (3); Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive +ENSG00000154310 Mental retardation, autosomal recessive 54, 617028 (3), Autosomal recessive +ENSG00000154415 Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant +ENSG00000154485 Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive +ENSG00000154646 Enterokinase deficiency, 226200 (3), Autosomal recessive +ENSG00000154678 ?Deafness, autosomal dominant 74, 618140 (3) +ENSG00000154743 Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive +ENSG00000154764 Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive +ENSG00000154767 Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive +ENSG00000154781 Hypotonia, infantile, with psychomotor retardation, 616816 (3), Autosomal recessive +ENSG00000154803 Birt-Hogg-Dube syndrome, 135150 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Pneumothorax, primary spontaneous, 173600 (3), Autosomal dominant; Renal carcinoma, chromophobe, somatic, 144700 (3) +ENSG00000154856 Hypotrichosis 1, 605389 (3), Autosomal dominant +ENSG00000154864 Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant +ENSG00000155016 Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive +ENSG00000155100 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive +ENSG00000155256 Spastic paraplegia 33, autosomal dominant, 610244 (3), Autosomal dominant +ENSG00000155380 Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant +ENSG00000155465 Lysinuric protein intolerance, 222700 (3), Autosomal recessive +ENSG00000155561 ?Nephrotic syndrome, type 13, 616893 (3) +ENSG00000155657 Cardiomyopathy, dilated, 1G, 604145 (3); Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Salih myopathy, 611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant +ENSG00000155719 Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive +ENSG00000155755 Joubert syndrome 14, 614424 (3), Autosomal recessive +ENSG00000155816 Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive +ENSG00000155846 {Obesity, variation in}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000155850 Achondrogenesis Ib, 600972 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive; De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive +ENSG00000155906 Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive +ENSG00000155961 Mental retardation, X-linked 72, 300271 (3), X-linked recessive; ?Waisman syndrome, 311510 (3), X-linked recessive +ENSG00000155962 ?Mental retardation, X-linked, syndromic 32, 300886 (3), X-linked recessive +ENSG00000155966 Mental retardation, X-linked, FRAXE type, 309548 (3), X-linked recessive +ENSG00000155974 Fraser syndrome 3, 617667 (3), Autosomal recessive +ENSG00000155975 Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive +ENSG00000155980 {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3), Autosomal dominant; Myoclonus, intractable, neonatal, 617235 (3), Autosomal dominant; Spastic paraplegia 10, autosomal dominant, 604187 (3), Autosomal dominant +ENSG00000156006 [Acetylation, slow], 243400 (3), Autosomal recessive +ENSG00000156052 Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3); Sturge-Weber syndrome, somatic, mosaic, 185300 (3) +ENSG00000156110 Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive +ENSG00000156113 ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant +ENSG00000156140 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3) +ENSG00000156150 Frontonasal dysplasia 1, 136760 (3), Autosomal recessive +ENSG00000156170 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000156171 Cone-rod dystrophy 21, 616502 (3), Autosomal recessive +ENSG00000156172 Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive; Retinitis pigmentosa 64, 614500 (3), Autosomal recessive +ENSG00000156298 Mental retardation, X-linked 58, 300210 (3), X-linked recessive +ENSG00000156313 Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive; Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3) +ENSG00000156413 Fucosyltransferase 6 deficiency, 613852 (3) +ENSG00000156414 ?Spermatogenic failure 30, 618110 (3), Autosomal recessive +ENSG00000156466 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant; Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3); Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant +ENSG00000156467 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive +ENSG00000156471 Lenz-Majewski hyperostotic dwarfism, 151050 (3), Autosomal dominant +ENSG00000156475 Spinocerebellar ataxia 12, 604326 (3), Autosomal dominant +ENSG00000156515 Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant +ENSG00000156531 Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive +ENSG00000156574 Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant +ENSG00000156650 Genitopatellar syndrome, 606170 (3), Autosomal dominant; SBBYSS syndrome, 603736 (3), Autosomal dominant +ENSG00000156709 Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Cowchock syndrome, 310490 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive +ENSG00000156738 Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive +ENSG00000156831 Seckel syndrome 10, 617253 (3), Autosomal recessive +ENSG00000156873 Cirrhosis due to liver phosphorylase kinase deficiency (3); Glycogen storage disease IXc, 613027 (3), Autosomal recessive +ENSG00000156876 ?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive +ENSG00000156925 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive +ENSG00000156970 Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive; [Premature chromatid separation trait], 176430 (3), Autosomal dominant +ENSG00000156973 ?Joubert syndrome 22, 615665 (3), Autosomal recessive +ENSG00000156983 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3), Autosomal dominant +ENSG00000157017 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000157087 {Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive +ENSG00000157103 Myoclonic-atonic epilepsy, 616421 (3), Autosomal dominant +ENSG00000157119 Nemaline myopathy 8, autosomal recessive, 615348 (3) +ENSG00000157131 C8 deficiency, type I, 613790 (3), Autosomal recessive +ENSG00000157152 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant +ENSG00000157184 CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant +ENSG00000157193 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000157227 ?Winchester syndrome, 277950 (3) +ENSG00000157259 ?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive +ENSG00000157388 Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive +ENSG00000157399 Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive +ENSG00000157404 Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Germ cell tumors, somatic, 273300 (3); Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Mastocytosis, cutaneous, 154800 (3), Autosomal dominant; Mastocytosis, systemic, somatic, 154800 (3); Piebaldism, 172800 (3), Autosomal dominant +ENSG00000157423 Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive +ENSG00000157483 Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive +ENSG00000157500 {Maturity-onset diabetes of the young, type 14}, 616511 (3), Autosomal dominant +ENSG00000157540 Mental retardation, autosomal dominant 7, 614104 (3), Autosomal dominant +ENSG00000157542 Keppen-Lubinsky syndrome, 614098 (3), Autosomal dominant +ENSG00000157613 Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive +ENSG00000157764 Adenocarcinoma of lung, somatic, 211980 (3); Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Colorectal cancer, somatic (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, 613706 (3), Autosomal dominant +ENSG00000157765 Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive +ENSG00000157766 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant +ENSG00000157796 ?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive +ENSG00000157856 Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive +ENSG00000157869 Cone-rod dystrophy 18, 615374 (3), Autosomal recessive +ENSG00000157911 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive; Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive +ENSG00000157933 Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant +ENSG00000157978 Hypercholesterolemia, familial, autosomal recessive, 603813 (3), Autosomal recessive +ENSG00000158014 Zinc deficiency, transient neonatal, 608118 (3), Autosomal dominant +ENSG00000158023 Spermatogenic failure 33, 618152 (3) +ENSG00000158055 Van der Woude syndrome 2, 606713 (3), Autosomal dominant +ENSG00000158104 Hawkinsinuria, 140350 (3), Autosomal dominant; Tyrosinemia, type III, 276710 (3), Autosomal recessive +ENSG00000158125 Xanthinuria, type I, 278300 (3), Autosomal recessive +ENSG00000158158 Jalili syndrome, 217080 (3), Autosomal recessive +ENSG00000158163 Polycystic kidney disease 5, 617610 (3), Autosomal recessive +ENSG00000158169 Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive +ENSG00000158290 Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive +ENSG00000158321 Mental retardation, autosomal dominant 26, 615834 (3), Autosomal dominant +ENSG00000158352 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3), X-linked +ENSG00000158445 Epileptic encephalopathy, early infantile, 26, 616056 (3), Autosomal dominant +ENSG00000158517 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3), Autosomal recessive +ENSG00000158526 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive +ENSG00000158578 Anemia, sideroblastic, 1, 300751 (3), X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked +ENSG00000158615 Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive +ENSG00000158683 Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive +ENSG00000158773 {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) +ENSG00000158813 Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive; Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant +ENSG00000158815 Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3), Autosomal dominant +ENSG00000158828 Parkinson disease 6, early onset, 605909 (3), Autosomal recessive +ENSG00000158864 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000158874 Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant +ENSG00000158887 Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Neuropathy, congenital hypomyelinating, 605253 (3), Autosomal recessive, Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant +ENSG00000159023 Elliptocytosis-1, 611804 (3), Autosomal recessive, Autosomal dominant +ENSG00000159063 Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant +ENSG00000159079 Ciliary dyskinesia, primary, 26, 615500 (3), Autosomal recessive +ENSG00000159082 Epileptic encephalopathy, early infantile, 53, 617389 (3), Autosomal recessive; Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive +ENSG00000159110 {Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3), Autosomal recessive +ENSG00000159128 Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive +ENSG00000159140 ZTTK syndrome, 617140 (3), Autosomal dominant +ENSG00000159147 Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive; Microcephaly-micromelia syndrome, 251230 (3), Autosomal recessive +ENSG00000159189 C1q deficiency, 613652 (3), Autosomal recessive +ENSG00000159197 Atrial fibrillation, familial, 4, 611493 (3); Long QT syndrome 6, 613693 (3), Autosomal dominant +ENSG00000159216 Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Platelet disorder, familial, with associated myeloid malignancy, 601399 (3), Autosomal dominant +ENSG00000159251 Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 11, 612098 (3), Autosomal dominant; Left ventricular noncompaction 4, 613424 (3), Autosomal dominant +ENSG00000159261 Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive +ENSG00000159267 Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive +ENSG00000159339 {Rheumatoid arthritis, susceptibility to}, 180300 (3) +ENSG00000159363 Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive +ENSG00000159377 ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3), Autosomal recessive +ENSG00000159403 Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3), Autosomal dominant +ENSG00000159423 Hyperprolinemia, type II, 239510 (3), Autosomal recessive +ENSG00000159450 ?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive +ENSG00000159459 Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive +ENSG00000159579 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3), Autosomal recessive +ENSG00000159640 [Angiotensin I-converting enzyme, benign serum increase] (3); {Microvascular complications of diabetes 3}, 612624 (3); {Myocardial infarction, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3) +ENSG00000159650 ?Urocanase deficiency, 276880 (3), Autosomal recessive +ENSG00000159692 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3), Autosomal dominant +ENSG00000159723 {Leanness, inherited} (3); {Obesity, late-onset}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000159753 Immunodeficiency 58, 618131 (3), Autosomal recessive +ENSG00000159899 Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant +ENSG00000159921 Nonaka myopathy, 605820 (3), Autosomal recessive; Sialuria, 269921 (3), Autosomal dominant +ENSG00000159958 Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive +ENSG00000160050 {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Autosomal recessive, Digenic recessive +ENSG00000160111 Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive +ENSG00000160131 Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive +ENSG00000160145 {Coronary heart disease, susceptibility to, 5}, 608901 (3) +ENSG00000160183 Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive +ENSG00000160188 Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive +ENSG00000160200 Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive +ENSG00000160202 Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant +ENSG00000160211 Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3) +ENSG00000160213 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive +ENSG00000160224 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant +ENSG00000160226 Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive; Spondylometaphyseal dysplasia, axial, 602271 (3), Autosomal recessive +ENSG00000160255 Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive +ENSG00000160282 Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive +ENSG00000160285 Cataract 44, 616509 (3), Autosomal recessive +ENSG00000160294 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive +ENSG00000160299 Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive +ENSG00000160323 Thrombotic thrombocytopenic purpura, familial, 274150 (3), Autosomal recessive +ENSG00000160460 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3), Autosomal recessive +ENSG00000160602 ?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive +ENSG00000160654 Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive +ENSG00000160688 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive +ENSG00000160695 Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive +ENSG00000160710 Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive; Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant +ENSG00000160712 [Interleukin 6, serum level of, QTL], 614752 (3); [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3) +ENSG00000160716 Epilepsy, nocturnal frontal lobe, 3, 605375 (3) +ENSG00000160746 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive +ENSG00000160752 Porokeratosis 9, multiple types, 616631 (3), Autosomal dominant +ENSG00000160789 Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive +ENSG00000160791 {Diabetes mellitus, insulin-dependent, 22}, 612522 (3); {HIV infection, susceptibility/resistance to} (3); {Hepatitis C virus, resistance to}, 609532 (3); {West nile virus, susceptibility to}, 610379 (3) +ENSG00000160796 Gray platelet syndrome, 139090 (3), Autosomal recessive +ENSG00000160801 Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive; Eiken syndrome, 600002 (3), Autosomal recessive; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant +ENSG00000160808 Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal recessive, Autosomal dominant +ENSG00000160867 {Cancer progression/metastasis} (3) +ENSG00000160877 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3), Autosomal dominant +ENSG00000160882 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive; Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant +ENSG00000160957 Baller-Gerold syndrome, 218600 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive; Rothmund-Thomson syndrome, 268400 (3), Autosomal recessive +ENSG00000161011 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Paget disease of bone 3, 167250 (3), Autosomal dominant +ENSG00000161202 Robinow syndrome, autosomal dominant 3, 616894 (3), Autosomal dominant +ENSG00000161217 Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive +ENSG00000161270 Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive +ENSG00000161395 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive +ENSG00000161513 Auditory neuropathy and optic atrophy, 617717 (3), Autosomal recessive +ENSG00000161533 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive +ENSG00000161594 Spermatogenic failure 11, 615081 (3), Autosomal dominant +ENSG00000161610 ?Narcolepsy 1, 161400 (3), Autosomal dominant +ENSG00000161653 N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive +ENSG00000161798 Palmoplantar keratoderma, Bothnian type, 600231 (3), Autosomal dominant +ENSG00000161904 Cataract 46, juvenile-onset, 212500 (3), Autosomal recessive +ENSG00000161970 ?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant +ENSG00000162004 ?Centronuclear myopathy 4, 614807 (3), Autosomal dominant +ENSG00000162009 Somatostatin analog, resistance to (3) +ENSG00000162039 ?Spermatogenic failure 22, 617706 (3), Autosomal recessive +ENSG00000162065 DOORS syndrome, 220500 (3), Autosomal recessive; Deafness , autosomal recessive 86, 614617 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 16, 615338 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive +ENSG00000162105 {Autism susceptibility 17}, 613436 (3) +ENSG00000162129 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive +ENSG00000162337 [Bone mineral density variability 1], 601884 (3), Autosomal dominant; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; {Osteoporosis}, 166710 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; van Buchem disease, type 2, 607636 (3), Autosomal dominant +ENSG00000162341 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) +ENSG00000162367 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) +ENSG00000162377 ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000162399 Bartter syndrome, type 4a, 602522 (3), Autosomal recessive; Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive +ENSG00000162426 Intellectual developmental disorder with neuropsychiatric features, 617532 (3), Autosomal recessive +ENSG00000162430 Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant +ENSG00000162438 {Pancreatitis, chronic, susceptibility to}, 167800 (3), Autosomal dominant +ENSG00000162512 {Obesity, association with}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000162551 Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive; Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant +ENSG00000162552 Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant; ?SERKAL syndrome, 611812 (3), Autosomal recessive +ENSG00000162594 {Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3) +ENSG00000162599 Brain malformations with or without urinary tract defects, 613735 (3), Isolated cases +ENSG00000162601 Bone marrow failure syndrome 4, 618116 (3), Autosomal recessive +ENSG00000162614 Cardiomyopathy, dilated, 1CC, 613122 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 20, 613876 (3), Autosomal dominant +ENSG00000162669 Premature ovarian failure 9, 615724 (3), Autosomal recessive +ENSG00000162676 ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant +ENSG00000162687 ?Epileptic encephalopathy, early infantile, 57, 617771 (3), Autosomal dominant +ENSG00000162688 Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive +ENSG00000162711 CINCA syndrome, 607115 (3), Autosomal dominant; Deafness, autosomal dominant 34, with or without inflammation, 617772 (3), Autosomal dominant; Familial cold inflammatory syndrome 1, 120100 (3), Autosomal dominant; Keratoendothelitis fugax hereditaria, 148200 (3), Autosomal dominant; Muckle-Wells syndrome, 191900 (3), Autosomal dominant +ENSG00000162733 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive +ENSG00000162735 Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive +ENSG00000162736 Acne inversa, familial, 1, 142690 (3), Autosomal dominant +ENSG00000162738 Neural tube defects, 182940 (3), Autosomal dominant +ENSG00000162747 Neutropenia, alloimmune neonatal (3) +ENSG00000162769 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive +ENSG00000162882 Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive +ENSG00000162885 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive +ENSG00000162923 Skraban-Deardorff syndrome, 617616 (3), Autosomal dominant +ENSG00000162928 Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive +ENSG00000162946 {Schizophrenia 9, susceptibility to}, 604906 (3) +ENSG00000162992 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young 6, 606394 (3) +ENSG00000162998 {Osteoarthritis susceptibility 1}, 165720 (3), Multifactorial +ENSG00000163017 Visceral myopathy, 155310 (3), Autosomal dominant +ENSG00000163050 Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive +ENSG00000163069 Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive +ENSG00000163093 Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive +ENSG00000163104 Adermatoglyphia, 136000 (3), Autosomal dominant; Basan syndrome, 129200 (3), Autosomal dominant +ENSG00000163132 Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant; Orofacial cleft 5, 608874 (3); Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant +ENSG00000163161 Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive; Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive +ENSG00000163170 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive +ENSG00000163254 Cataract 2, multiple types, 604307 (3), Autosomal dominant +ENSG00000163288 Epileptic encephalopathy, early infantile, 45, 617153 (3), Autosomal dominant +ENSG00000163297 Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive +ENSG00000163344 Porokeratosis 1, multiple types, 175800 (3), Autosomal dominant +ENSG00000163347 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive +ENSG00000163359 Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant +ENSG00000163362 {Inflammatory bowel disease 29}, 618077 (3) +ENSG00000163374 Grange syndrome, 602531 (3), Autosomal recessive +ENSG00000163378 Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive +ENSG00000163380 Nemaline myopathy 10, 616165 (3), Autosomal recessive +ENSG00000163382 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive +ENSG00000163389 Dowling-Degos disease 4, 615696 (3), Autosomal dominant; ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive +ENSG00000163399 Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3), Autosomal dominant +ENSG00000163421 Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3), Autosomal dominant +ENSG00000163453 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive +ENSG00000163464 {AIDS, slow progression to}, 609423 (3) +ENSG00000163499 ?Cataract 42, 115900 (3), Autosomal dominant +ENSG00000163501 Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant +ENSG00000163513 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant +ENSG00000163527 ?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive +ENSG00000163536 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3), Autosomal dominant +ENSG00000163541 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive +ENSG00000163554 Elliptocytosis-2, 130600 (3), Autosomal dominant; Pyropoikilocytosis, 266140 (3), Autosomal recessive; Spherocytosis, type 3, 270970 (3), Autosomal recessive +ENSG00000163581 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive +ENSG00000163599 Autoimmune lymphoproliferative syndrome, type V, 616100 (3), Autosomal dominant; {Celiac disease, susceptibility to, 3}, 609755 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Hashimoto thyroiditis}, 140300 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant +ENSG00000163600 Immunodeficiency, common variable, 1, 607594 (3), Autosomal recessive +ENSG00000163625 ?Microcephaly 18, primary, autosomal dominant, 617520 (3), Autosomal dominant +ENSG00000163631 Analbuminemia, 616000 (3); [Dysalbuminemic hyperthyroxinemia], 615999 (3) +ENSG00000163635 Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant +ENSG00000163644 ?Maple syrup urine disease, mild variant, 615135 (3) +ENSG00000163646 Retinitis pigmentosa 61, 614180 (3); Usher syndrome, type 3A, 276902 (3), Autosomal recessive +ENSG00000163666 Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant; Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant +ENSG00000163687 Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive +ENSG00000163702 Candidiasis, familial, 9, 616445 (3), Autosomal recessive +ENSG00000163703 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3), Autosomal dominant +ENSG00000163719 {Centronuclear myopathy, autosomal, modifier of}, 160150 (3), Autosomal dominant +ENSG00000163754 ?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive +ENSG00000163755 Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive +ENSG00000163795 ?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive +ENSG00000163817 Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive +ENSG00000163818 Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive +ENSG00000163820 Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive +ENSG00000163848 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3), Autosomal dominant +ENSG00000163877 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive +ENSG00000163898 Hypotrichosis 7, 604379 (3), Autosomal recessive; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive +ENSG00000163913 Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive +ENSG00000163914 Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant +ENSG00000163930 Tumor predisposition syndrome, 614327 (3), Autosomal dominant +ENSG00000163931 Short stature, developmental delay, and congenital heart defects, 617044 (3), Autosomal recessive +ENSG00000163932 Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive +ENSG00000163933 Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive +ENSG00000163945 UV-sensitive syndrome 3, 614640 (3), Autosomal recessive +ENSG00000163956 Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive +ENSG00000163961 RIDDLE syndrome, 611943 (3), Autosomal recessive +ENSG00000164007 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive +ENSG00000164010 [Blood group, Radin], 111620 (3); [Blood group, Scianna system], 111750 (3) +ENSG00000164022 Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive +ENSG00000164066 ?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive +ENSG00000164073 Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive; Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive +ENSG00000164078 {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3), Autosomal dominant +ENSG00000164087 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive +ENSG00000164093 Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Ring dermoid of cornea, 180550 (3), Autosomal dominant +ENSG00000164099 Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive +ENSG00000164111 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3), Autosomal dominant +ENSG00000164116 Moyamoya 6 with achalasia, 615750 (3), Autosomal recessive +ENSG00000164120 Cranioosteoarthropathy, 259100 (3), Autosomal recessive; Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive +ENSG00000164134 Mental retardation, autosomal dominant 50, 617787 (3), Autosomal dominant +ENSG00000164172 Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive +ENSG00000164175 Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive +ENSG00000164182 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000164190 Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant +ENSG00000164199 ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant; Usher syndrome, type 2C, 605472 (3), Autosomal recessive; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive +ENSG00000164209 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive +ENSG00000164258 Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000164265 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant +ENSG00000164266 {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant +ENSG00000164306 Myopia 22, autosomal dominant, 615420 (3), Autosomal dominant +ENSG00000164326 {?Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000164342 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3), Autosomal recessive, Autosomal dominant; {HIV1 infection, resistance to}, 609423 (3) +ENSG00000164344 Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive +ENSG00000164362 {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal recessive, Autosomal dominant; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal recessive, Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 9}, 615134 (3); {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant +ENSG00000164398 Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3) +ENSG00000164404 ?Premature ovarian failure 14, 618014 (3), Autosomal recessive +ENSG00000164405 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive +ENSG00000164414 Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive +ENSG00000164418 Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive +ENSG00000164442 Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal defect 2, 614431 (3), Autosomal dominant +ENSG00000164458 {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant; Sacral agenesis with vertebral anomalies, 615709 (3), Autosomal recessive +ENSG00000164494 Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive +ENSG00000164509 ?Amyloidosis, primary localized cutaneous, 2, 613955 (3), Autosomal dominant +ENSG00000164532 Atrial septal defect 4, 611363 (3) +ENSG00000164587 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3) +ENSG00000164588 Epileptic encephalopathy, early infantile, 24, 615871 (3), Autosomal dominant +ENSG00000164597 Congenital disorder of glycosylation, type IIi, 613612 (3) +ENSG00000164610 ?Retinitis pigmentosa 9, 180104 (3), Autosomal dominant +ENSG00000164619 Diaphanospondylodysostosis, 608022 (3), Autosomal recessive +ENSG00000164690 Holoprosencephaly 3, 142945 (3), Autosomal dominant; Microphthalmia with coloboma 5, 611638 (3), Autosomal dominant; Schizencephaly, 269160 (3); Single median maxillary central incisor, 147250 (3), Autosomal dominant +ENSG00000164692 Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant +ENSG00000164708 Glycogen storage disease X, 261670 (3), Autosomal recessive +ENSG00000164736 Vesicoureteral reflux 3, 613674 (3), Autosomal dominant +ENSG00000164741 Colorectal cancer, somatic, 114500 (3) +ENSG00000164742 ?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive +ENSG00000164751 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive +ENSG00000164754 Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant; ?Mungan syndrome, 611376 (3), Autosomal recessive +ENSG00000164756 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000164761 Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive +ENSG00000164818 Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive +ENSG00000164867 {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Coronary artery spasm 1, susceptibility to} (3); {Hypertension, pregnancy-induced}, 189800 (3), Autosomal dominant; {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Ischemic stroke, susceptibility to}, 601367 (3), Multifactorial; {Placental abruption} (3) +ENSG00000164885 ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive +ENSG00000164904 Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive +ENSG00000164930 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3), Autosomal recessive +ENSG00000164932 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) +ENSG00000164933 ?Exercise intolerance, riboflavin-responsive, 616839 (3), Autosomal recessive +ENSG00000164946 Bifid nose with or without anorectal and renal anomalies, 608980 (3); Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant +ENSG00000164951 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive +ENSG00000164953 {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive; Meckel syndrome 3, 607361 (3), Autosomal recessive; Nephronophthisis 11, 613550 (3), Autosomal recessive +ENSG00000164961 Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant +ENSG00000165029 {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3), Autosomal dominant; HDL deficiency, type 2, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive +ENSG00000165059 ?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive +ENSG00000165060 Friedreich ataxia, 229300 (3), Autosomal recessive; Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive +ENSG00000165078 Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant; Febrile seizures, familial, 11, 614418 (3), Autosomal recessive +ENSG00000165091 Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant; Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive +ENSG00000165102 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive; Retinitis pigmentosa 73, 616544 (3), Autosomal recessive +ENSG00000165119 Au-Kline syndrome, 616580 (3), Autosomal dominant +ENSG00000165138 Nephronophthisis 16, 615382 (3), Autosomal recessive +ENSG00000165140 Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive +ENSG00000165168 Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive; Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive +ENSG00000165186 {Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive +ENSG00000165194 Epileptic encephalopathy, early infantile, 9, 300088 (3), X-linked +ENSG00000165195 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3) +ENSG00000165240 Menkes disease, 309400 (3), X-linked recessive; Occipital horn syndrome, 304150 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive +ENSG00000165269 [Glycerol quantitative trait locus], 614411 (3), Autosomal recessive +ENSG00000165272 [Blood group GIL], 607457 (3) +ENSG00000165280 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3), Autosomal dominant; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3), Autosomal dominant +ENSG00000165282 Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive +ENSG00000165288 Mental retardation, X-linked 93, 300659 (3), X-linked recessive +ENSG00000165370 Pituitary adenoma 2, GH-secreting, 300943 (3), X-linked +ENSG00000165392 Werner syndrome, 277700 (3), Autosomal recessive +ENSG00000165409 Hyperthyroidism, familial gestational, 603373 (3); Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant, Isolated cases; Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3) +ENSG00000165410 Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive +ENSG00000165458 Opsismodysplasia, 258480 (3), Autosomal recessive +ENSG00000165462 Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive +ENSG00000165471 {Chronic infections, due to MBL deficiency}, 614372 (3), Autosomal dominant +ENSG00000165474 Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Autosomal recessive; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant +ENSG00000165478 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant +ENSG00000165506 Ciliary dyskinesia, primary, 10, 612518 (3) +ENSG00000165533 Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive +ENSG00000165588 Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3), Autosomal dominant +ENSG00000165617 ?Townes-Brocks syndrome 2, 617466 (3), Autosomal dominant +ENSG00000165643 Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant +ENSG00000165646 ?Parkinsonism-dystonia, infantile, 2, 618049 (3), Autosomal recessive +ENSG00000165671 Leukemia, acute myeloid, 601626 (1), Autosomal dominant; Sotos syndrome 1, 117550 (3), Autosomal dominant +ENSG00000165688 Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive +ENSG00000165694 Nystagmus 1, congenital, X-linked, 310700 (3), X-linked; Nystagmus, infantile periodic alternating, X-linked, 310700 (3), X-linked +ENSG00000165699 Focal cortical dysplasia, type II, somatic, 607341 (3); Lymphangioleiomyomatosis, 606690 (3); Tuberous sclerosis-1, 191100 (3), Autosomal dominant +ENSG00000165702 Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant +ENSG00000165704 HPRT-related gout, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive +ENSG00000165730 Preeclampsia/eclampsia 4, 609404 (3) +ENSG00000165731 Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, protection against}, 142623 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3), Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant +ENSG00000165733 ?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal dominant +ENSG00000165802 Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3), Autosomal dominant +ENSG00000165821 ?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive +ENSG00000165841 Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive; Proguanil poor metabolizer, 609535 (3), Autosomal recessive +ENSG00000165898 Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive +ENSG00000165899 Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive +ENSG00000165915 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive +ENSG00000165917 Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive +ENSG00000165970 Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant +ENSG00000165995 Brugada syndrome 4, 611876 (3) +ENSG00000166033 CARASIL syndrome, 600142 (3), Autosomal recessive; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant; {Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3) +ENSG00000166035 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Hepatic lipase deficiency, 614025 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 12], 612797 (3) +ENSG00000166037 Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive +ENSG00000166068 Legius syndrome, 611431 (3), Autosomal dominant +ENSG00000166086 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive +ENSG00000166123 Mental retardation, autosomal recessive 49, 616281 (3), Autosomal recessive +ENSG00000166126 Megaloblastic anemia-1, Norwegian type, 261100 (3), Autosomal recessive +ENSG00000166147 Acromicric dysplasia, 102370 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; Geleophysic dysplasia 2, 614185 (3), Autosomal dominant; MASS syndrome, 604308 (3); Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Marfan syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant, 608328 (3), Autosomal dominant +ENSG00000166189 Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive +ENSG00000166206 {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Epileptic encephalopathy, early infantile, 43, 617113 (3), Autosomal dominant +ENSG00000166224 Nephrotic syndrome, type 14, 617575 (3), Autosomal recessive +ENSG00000166228 Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive +ENSG00000166250 Congenital short bowel syndrome, 615237 (3), Autosomal recessive +ENSG00000166257 Atrial fibrillation, familial, 16, 613120 (3), Autosomal dominant; Brugada syndrome 7, 613120 (3), Autosomal dominant +ENSG00000166278 C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) +ENSG00000166311 Niemann-Pick disease, type A, 257200 (3), Autosomal recessive; Niemann-Pick disease, type B, 607616 (3), Autosomal recessive +ENSG00000166326 ?Aniridia 3, 617142 (3), Autosomal dominant +ENSG00000166340 Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive +ENSG00000166341 Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive +ENSG00000166347 Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive +ENSG00000166349 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive +ENSG00000166396 Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive +ENSG00000166401 Peeling skin syndrome 5, 617115 (3), Autosomal recessive +ENSG00000166402 ?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive +ENSG00000166415 Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive +ENSG00000166535 {Otitis media, susceptibility to}, 166760 (3) +ENSG00000166546 Spinocerebellar ataxia 31, 117210 (3), Autosomal dominant +ENSG00000166548 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive +ENSG00000166558 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive +ENSG00000166603 Obesity, autosomal dominant, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000166685 Congenital disorder of glycosylation, type IIg, 611209 (3) +ENSG00000166710 ?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Immunodeficiency 43, 241600 (3), Autosomal recessive +ENSG00000166794 Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive +ENSG00000166801 Gracile bone dysplasia, 602361 (3), Autosomal dominant; Kenny-Caffey syndrome, type 2, 127000 (3), Autosomal dominant +ENSG00000166813 Acrocallosal syndrome, 200990 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive; ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; Joubert syndrome 12, 200990 (3), Autosomal recessive +ENSG00000166819 Lipodystrophy, familial partial, type 4, 613877 (3), Autosomal dominant +ENSG00000166828 Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome, 618114 (3); Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive +ENSG00000166855 ?Protoporphyria, erythropoietic, 2, 618015 (3), Autosomal dominant +ENSG00000166862 ?Mental retardation, autosomal dominant 10, 614256 (3) +ENSG00000166863 Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive +ENSG00000166947 Spherocytosis, type 5, 612690 (3) +ENSG00000166948 Spinocerebellar ataxia 35, 613908 (3), Autosomal dominant +ENSG00000166949 Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant +ENSG00000166974 Symmetric circumferential skin creases, congenital, 2, 616734 (3), Autosomal dominant +ENSG00000166986 Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant; Interstitial lung and liver disease, 615486 (3), Autosomal recessive +ENSG00000167085 {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant +ENSG00000167098 Spermatogenic failure 16, 617187 (3), Autosomal recessive +ENSG00000167113 Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive +ENSG00000167114 Ichthyosis prematurity syndrome, 608649 (3) +ENSG00000167131 Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive +ENSG00000167186 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3), Autosomal recessive +ENSG00000167207 Blau syndrome, 186580 (3), Autosomal dominant; {Inflammatory bowel disease 1, Crohn disease}, 266600 (3), Multifactorial; {Psoriatic arthritis, susceptibility to}, 607507 (2); {Yao syndrome}, 617321 (3), Multifactorial +ENSG00000167210 Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive +ENSG00000167244 ?Growth restriction, severe, with distinctive facies, 616489 (3), Autosomal dominant +ENSG00000167286 Immunodeficiency 19, 615617 (3), Autosomal recessive +ENSG00000167306 Microvillus inclusion disease, 251850 (3), Autosomal recessive +ENSG00000167323 Immunodeficiency 10, 612783 (3), Autosomal recessive; Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Stormorken syndrome, 185070 (3), Autosomal dominant +ENSG00000167371 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3), Autosomal dominant; Episodic kinesigenic dyskinesia 1, 128200 (3), Autosomal dominant; Seizures, benign familial infantile, 2, 605751 (3), Autosomal dominant +ENSG00000167397 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3), Autosomal dominant +ENSG00000167434 Retinitis pigmentosa 17, 600852 (3), Autosomal dominant +ENSG00000167468 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive +ENSG00000167508 Porokeratosis 7, multiple types, 614714 (3), Autosomal dominant +ENSG00000167513 Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive +ENSG00000167522 KBG syndrome, 148050 (3), Autosomal dominant +ENSG00000167548 Kabuki syndrome 1, 147920 (3), Autosomal dominant +ENSG00000167552 Lissencephaly 3, 611603 (3), Autosomal dominant +ENSG00000167580 Diabetes insipidus, nephrogenic, 125800 (3), Autosomal recessive, Autosomal dominant +ENSG00000167588 Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive +ENSG00000167632 Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive +ENSG00000167633 {AIDS, delayed/rapid progression to}, 609423 (3) +ENSG00000167634 Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive +ENSG00000167642 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive +ENSG00000167646 Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive +ENSG00000167654 Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive +ENSG00000167658 ?Spinocerebellar ataxia 26, 609306 (3), Autosomal dominant +ENSG00000167711 Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive +ENSG00000167716 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive; Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive +ENSG00000167723 Olmsted syndrome, 614594 (3), Autosomal dominant; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3), Autosomal dominant +ENSG00000167748 [Kallikrein, decreased urinary activity of], 615953 (3) +ENSG00000167749 Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive +ENSG00000167768 Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant +ENSG00000167772 Plasma triglyceride level QTL, low, 615881 (3), Autosomal dominant +ENSG00000167775 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3) +ENSG00000167791 Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive +ENSG00000167792 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000167895 Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive +ENSG00000167941 Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant; Sclerosteosis 1, 269500 (3), Autosomal recessive; Van Buchem disease, 239100 (3), Autosomal recessive +ENSG00000167972 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive +ENSG00000167985 Paragangliomas 2, 601650 (3), Autosomal dominant +ENSG00000167995 Bestrophinopathy, autosomal recessive, 611809 (3); Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3), Autosomal dominant; Retinitis pigmentosa, concentric, 613194 (3); Retinitis pigmentosa-50, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant +ENSG00000167996 ?Hemochromatosis, type 5, 615517 (3), Autosomal dominant +ENSG00000168000 Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive; Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant +ENSG00000168014 ?Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive +ENSG00000168028 Asplenia, isolated congenital, 271400 (3), Autosomal dominant +ENSG00000168036 Colorectal cancer, somatic, 114500 (3); Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); Medulloblastoma, somatic, 155255 (3); Mental retardation, autosomal dominant 19, 615075 (3), Autosomal dominant; Ovarian cancer, somatic, 167000 (3); Pilomatricoma, somatic, 132600 (3) +ENSG00000168040 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive +ENSG00000168056 Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant +ENSG00000168137 Mental retardation, autosomal dominant 23, 615761 (3), Autosomal dominant +ENSG00000168214 Adams-Oliver syndrome 3, 614814 (3), Autosomal dominant +ENSG00000168216 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive +ENSG00000168229 {Asthma, susceptibility to, 1}, 607277 (3) +ENSG00000168237 D-glyceric aciduria, 220120 (3), Autosomal recessive +ENSG00000168263 Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive +ENSG00000168264 ?Immunodeficiency, common variable, 14, 617765 (3), Autosomal dominant +ENSG00000168267 Pancreatic agenesis 2, 615935 (3), Autosomal recessive; Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive +ENSG00000168269 Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive +ENSG00000168275 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3), Autosomal recessive +ENSG00000168280 Cortical dysplasia, complex, with other brain malformations 2, 615282 (3), Autosomal dominant +ENSG00000168282 Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive +ENSG00000168288 Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive +ENSG00000168291 Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) +ENSG00000168298 Rahman syndrome, 617537 (3), Autosomal dominant +ENSG00000168303 Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive +ENSG00000168306 Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal recessive +ENSG00000168329 {Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Rapid progression to AIDS from HIV1 infection}, 609423 (3) +ENSG00000168356 Episodic pain syndrome, familial, 3, 615552 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3), Autosomal dominant +ENSG00000168389 Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive +ENSG00000168394 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive +ENSG00000168411 ?Fanconi anemia, complementation group W, 617784 (3), Autosomal recessive +ENSG00000168434 Congenital disorder of glycosylation, type IIe, 608779 (3) +ENSG00000168447 Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Liddle syndrome 1, 177200 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive +ENSG00000168453 Alopecia universalis, 203655 (3), Autosomal recessive; Atrichia with papular lesions, 209500 (3), Autosomal recessive; Hypotrichosis 4, 146550 (3), Autosomal dominant +ENSG00000168477 Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant +ENSG00000168484 Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant +ENSG00000168487 Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive +ENSG00000168509 Hemochromatosis, type 2A, 602390 (3), Autosomal recessive +ENSG00000168538 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive +ENSG00000168542 Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant +ENSG00000168575 Basal ganglia calcification, idiopathic, 1, 213600 (3), Autosomal dominant +ENSG00000168610 Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3), Autosomal dominant; Hyper-IgE recurrent infection syndrome, 147060 (3), Autosomal dominant +ENSG00000168615 Cone-rod dystrophy 9, 612775 (3) +ENSG00000168621 Central hypoventilation syndrome, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal dominant; {Pheochromocytoma, modifier of}, 171300 (3), Autosomal dominant +ENSG00000168646 Colorectal cancer, somatic, 114500 (3); Oligodontia-colorectal cancer syndrome, 608615 (3), Autosomal dominant +ENSG00000168658 ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive +ENSG00000168685 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive +ENSG00000168724 Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive +ENSG00000168769 Myelodysplastic syndrome, somatic, 614286 (3) +ENSG00000168778 Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive +ENSG00000168827 Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive +ENSG00000168878 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive +ENSG00000168944 Joubert syndrome 31, 617761 (3), Autosomal recessive; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive +ENSG00000168955 {Specific language impairment 5}, 615432 (3), Autosomal dominant +ENSG00000168958 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive +ENSG00000168993 Epileptic encephalopathy, early infantile, 63, 617976 (3), Autosomal recessive +ENSG00000169031 Alport syndrome, autosomal dominant, 104200 (3), Autosomal dominant; Alport syndrome, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, benign familial, 141200 (3), Autosomal dominant +ENSG00000169032 Cardiofaciocutaneous syndrome 3, 615279 (3) +ENSG00000169047 {Coronary artery disease, susceptibility to} (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant +ENSG00000169057 {Autism susceptibility, X-linked 3}, 300496 (3), Isolated cases, X-linked, Multifactorial; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Mental retardation, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; Mental retardation, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, atypical, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant +ENSG00000169071 Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive +ENSG00000169083 Androgen insensitivity, 300068 (3), X-linked recessive; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Autosomal dominant; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive +ENSG00000169105 Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive +ENSG00000169126 Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive +ENSG00000169169 ?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant +ENSG00000169174 Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3) +ENSG00000169184 Meningioma, 607174 (3), Autosomal dominant +ENSG00000169194 {Allergic rhinitis, susceptibility to}, 607154 (3); {Asthma, susceptibility to}, 600807 (3), Autosomal dominant +ENSG00000169218 Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive +ENSG00000169247 Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant +ENSG00000169252 {Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant; Beta-2-adrenoreceptor agonist, reduced response to (3); {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000169255 [Blood group, P1PK system, P(k) phenotype], 111400 (3); [Blood group, globoside system], 615021 (3) +ENSG00000169271 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3), Autosomal dominant +ENSG00000169297 Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked +ENSG00000169306 Mental retardation, X-linked 21/34, 300143 (3), X-linked recessive +ENSG00000169313 Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive +ENSG00000169344 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3); Hyperuricemic nephropathy, familial juvenile 1, 162000 (3), Autosomal dominant; Medullary cystic kidney disease 2, 603860 (3) +ENSG00000169359 Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive; Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant +ENSG00000169372 Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive +ENSG00000169375 Witteveen-Kolk syndrome, 613406 (3), Autosomal dominant +ENSG00000169379 Joubert syndrome 8, 612291 (3), Autosomal recessive +ENSG00000169427 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3) +ENSG00000169432 {Dravet syndrome, modifier of}, 607208 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3), Autosomal dominant; Erythermalgia, primary, 133020 (3), Autosomal dominant; Febrile seizures, familial, 3B, 613863 (3), Autosomal dominant; HSAN2D, autosomal recessive, 243000 (3), Autosomal recessive; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Paroxysmal extreme pain disorder,, 167400 (3), Autosomal dominant; Small fiber neuropathy, 133020 (3), Autosomal dominant +ENSG00000169515 3-M syndrome 3, 614205 (3), Autosomal recessive +ENSG00000169554 Mowat-Wilson syndrome, 235730 (3), Autosomal dominant +ENSG00000169562 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3), X-linked dominant +ENSG00000169567 Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive +ENSG00000169599 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive +ENSG00000169604 GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant +ENSG00000169607 Filippi syndrome, 272440 (3), Autosomal recessive +ENSG00000169676 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3), Autosomal dominant; {Blepharospasm, primary benign}, 606798 (3), Isolated cases +ENSG00000169679 Colorectal cancer with chromosomal instability, somatic (3) +ENSG00000169684 {Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence, susceptibility to}, 612052 (3) +ENSG00000169692 Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive +ENSG00000169696 Alveolar soft-part sarcoma, 606243 (3) +ENSG00000169704 Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive +ENSG00000169714 Myotonic dystrophy 2, 602668 (3), Autosomal dominant +ENSG00000169738 [Pentosuria], 260800 (3), Autosomal recessive +ENSG00000169762 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3), Autosomal recessive +ENSG00000169783 Mental retardation, autosomal recessive 64, 618103 (3), Autosomal recessive +ENSG00000169814 Biotinidase deficiency, 253260 (3), Autosomal recessive +ENSG00000169836 Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive +ENSG00000169884 Split-hand/foot malformation 6, 225300 (3), Autosomal recessive; Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant +ENSG00000169896 {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3) +ENSG00000169919 Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive +ENSG00000169933 Mental retardation, X-linked 104, 300983 (3), X-linked recessive +ENSG00000169946 Diaphragmatic hernia 3, 610187 (3); Tetralogy of Fallot, 187500 (3), Autosomal dominant; 46XY sex reversal 9, 616067 (3), Autosomal dominant +ENSG00000170027 Epileptic encephalopathy, early infantile, 56, 617665 (3), Autosomal dominant +ENSG00000170099 Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant +ENSG00000170113 Spastic paraplegia 6, autosomal dominant, 600363 (3), Autosomal dominant +ENSG00000170175 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive +ENSG00000170180 [Blood group, MNSs system], 111300 (3); {Malaria, resistance to}, 611162 (3) +ENSG00000170262 Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive +ENSG00000170264 Retinitis pigmentosa 28, 606068 (3) +ENSG00000170266 GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive; GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive +ENSG00000170275 Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive +ENSG00000170289 Achromatopsia 3, 262300 (3), Autosomal recessive; Macular degeneration, juvenile, 248200 (3), Autosomal recessive +ENSG00000170370 Schizencephaly, 269160 (3) +ENSG00000170374 Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive +ENSG00000170381 ?CHARGE syndrome, 214800 (3), Autosomal dominant +ENSG00000170421 Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive +ENSG00000170426 Ichthyosis, congenital, autosomal recessive 13, 617574 (3), Autosomal recessive +ENSG00000170442 Monilethrix, 158000 (3), Autosomal dominant +ENSG00000170445 Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3), Autosomal dominant; Usher syndrome type 3B, 614504 (3), Autosomal recessive +ENSG00000170454 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) +ENSG00000170465 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3), Autosomal dominant +ENSG00000170477 White sponge nevus 1, 193900 (3), Autosomal dominant +ENSG00000170484 ?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive; ?Hypotrichosis 3, 613981 (3), Autosomal dominant; Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant +ENSG00000170498 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive +ENSG00000170523 Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive; Monilethrix, 158000 (3), Autosomal dominant +ENSG00000170540 ?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive +ENSG00000170581 Immunodeficiency 44, 616636 (3), Autosomal recessive +ENSG00000170615 ?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive +ENSG00000170624 Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive +ENSG00000170734 Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive +ENSG00000170819 Cataract 12, multiple types, 611597 (3), Autosomal dominant +ENSG00000170820 Ovarian dysgenesis 1, 233300 (3), Autosomal recessive; Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive +ENSG00000170835 Maturity-onset diabetes of the young, type VIII, 609812 (3), Autosomal dominant +ENSG00000170836 Breast cancer, somatic, 114480 (3); Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3), Autosomal dominant +ENSG00000170876 Arrhythmogenic right ventricular dysplasia 5, 604400 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3), Autosomal dominant +ENSG00000170881 Renal cell carcinoma, 144700 (3) +ENSG00000170892 ?Pontocerebellar hypoplasia type 2C, 612390 (3) +ENSG00000170927 Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive +ENSG00000171094 {Neuroblastoma, susceptibility to, 3}, 613014 (3) +ENSG00000171100 Myotubular myopathy, X-linked, 310400 (3), X-linked recessive +ENSG00000171105 Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant; Leprechaunism, 246200 (3), Autosomal recessive; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive +ENSG00000171124 [Blood group, Lewis] (3) +ENSG00000171135 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive +ENSG00000171155 Tn polyagglutination syndrome, somatic, 300622 (3) +ENSG00000171195 {Asthma, protection against}, 600807 (3), Autosomal dominant +ENSG00000171202 Optic atrophy 7, 612989 (3), Autosomal recessive +ENSG00000171204 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000171298 Glycogen storage disease II, 232300 (3), Autosomal recessive +ENSG00000171302 Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive +ENSG00000171303 Pulmonary hypertension, primary, 4, 615344 (3), Autosomal dominant +ENSG00000171316 CHARGE syndrome, 214800 (3), Autosomal dominant; Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant +ENSG00000171320 Roberts syndrome, 268300 (3), Autosomal recessive; SC phocomelia syndrome, 269000 (3), Autosomal recessive +ENSG00000171365 Dent disease, 300009 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive +ENSG00000171385 Brugada syndrome 9, 616399 (3), Autosomal dominant; Spinocerebellar ataxia 19, 607346 (3), Autosomal dominant +ENSG00000171401 White sponge nevus 2, 615785 (3), Autosomal dominant +ENSG00000171403 Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant +ENSG00000171444 Colorectal cancer, somatic, 114500 (3) +ENSG00000171453 Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive; Treacher Collins syndrome 3, 248390 (3), Autosomal recessive +ENSG00000171456 Bohring-Opitz syndrome, 605039 (3), Autosomal dominant; Myelodysplastic syndrome, somatic, 614286 (3) +ENSG00000171503 Glutaric acidemia IIC, 231680 (3), Autosomal recessive +ENSG00000171551 Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive +ENSG00000171557 Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive +ENSG00000171560 Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, congenital, 616004 (3) +ENSG00000171564 Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive +ENSG00000171595 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) +ENSG00000171608 Immunodeficiency 14, 615513 (3), Autosomal dominant +ENSG00000171634 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3), Autosomal dominant +ENSG00000171680 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive +ENSG00000171714 Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant; Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive +ENSG00000171723 Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive +ENSG00000171735 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3), Autosomal dominant +ENSG00000171759 [Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive +ENSG00000171766 Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive +ENSG00000171772 ?Premature ovarian failure 12, 616947 (3), Autosomal recessive; ?Spermatogenic failure 15, 616950 (3), Autosomal recessive +ENSG00000171791 Leukemia/lymphoma, B-cell, 2 (3) +ENSG00000171793 Immunodeficiency 24, 615897 (3), Autosomal recessive +ENSG00000171812 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3), Autosomal dominant; Corneal dystrophy, posterior polymorphous 2, 609140 (3), Autosomal dominant +ENSG00000171853 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3), Autosomal recessive +ENSG00000171862 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3); Cowden syndrome 1, 158350 (3), Autosomal dominant; {Glioma susceptibility 2}, 613028 (3); Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant; {Meningioma}, 607174 (3), Autosomal dominant; PTEN hamartoma tumor syndrome (3); {Prostate cancer, somatic}, 176807 (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3), Autosomal recessive +ENSG00000171863 Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant +ENSG00000171865 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3), Autosomal recessive +ENSG00000171867 Cerebral amyloid angiopathy, PRNP-related, 137440 (3), Autosomal dominant; Creutzfeldt-Jakob disease, 123400 (3), Autosomal dominant; Gerstmann-Straussler disease, 137440 (3), Autosomal dominant; Huntington disease-like 1, 603218 (3), Autosomal dominant; Insomnia, fatal familial, 600072 (3), Autosomal dominant; {Kuru, susceptibility to}, 245300 (3); Prion disease with protracted course, 606688 (3), Autosomal dominant +ENSG00000171953 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive +ENSG00000171954 Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive +ENSG00000172007 Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive +ENSG00000172037 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive +ENSG00000172053 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3), Autosomal recessive +ENSG00000172059 Maturity-onset diabetes of the young, type VII, 610508 (3) +ENSG00000172062 Spinal muscular atrophy-1, 253300 (3), Autosomal recessive; Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive +ENSG00000172071 Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive +ENSG00000172115 Thrombocytopenia 4, 612004 (3), Autosomal dominant +ENSG00000172156 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {HIV1, resistance to}, 609423 (3) +ENSG00000172175 Immunodeficiency 12, 615468 (3), Autosomal recessive +ENSG00000172243 {Aspergillosis, susceptibility to}, 614079 (3); Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive +ENSG00000172269 Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive +ENSG00000172270 [Blood group, OK], 111380 (3) +ENSG00000172315 Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive +ENSG00000172331 Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3), Autosomal recessive +ENSG00000172339 ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3) +ENSG00000172361 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive +ENSG00000172379 ?Webb-Dattani syndrome, 615926 (3), Autosomal recessive +ENSG00000172399 Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant +ENSG00000172409 Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive +ENSG00000172426 Ciliary dyskinesia, primary, 12, 612650 (3) +ENSG00000172432 Jaberi-Elahi syndrome, 617988 (3), Autosomal recessive +ENSG00000172482 Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive +ENSG00000172500 Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive +ENSG00000172534 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive +ENSG00000172548 Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive +ENSG00000172572 Hypertension and brachydactyly syndrome, 112410 (3), Autosomal dominant +ENSG00000172638 Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive +ENSG00000172817 Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive; Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive +ENSG00000172867 Ichthyosis bullosa of Siemens, 146800 (3), Autosomal dominant +ENSG00000172893 Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive +ENSG00000172922 Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive +ENSG00000172936 Macroglobulinemia, Waldenstrom, somatic, 153600 (3); Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) +ENSG00000172943 Mental retardation syndrome, X-linked, Siderius type, 300263 (3), X-linked recessive +ENSG00000172987 Urofacial syndrome 1, 236730 (3), Autosomal recessive +ENSG00000173040 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant +ENSG00000173085 Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive; {Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant +ENSG00000173175 Dyskinesia, familial, with facial myokymia, 606703 (3), Autosomal dominant +ENSG00000173218 Caudal regression syndrome, 600145 (3), Autosomal dominant; {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant +ENSG00000173226 Senior-Loken syndrome 5, 609254 (3), Autosomal recessive +ENSG00000173369 C1q deficiency, 613652 (3), Autosomal recessive +ENSG00000173372 C1q deficiency, 613652 (3), Autosomal recessive +ENSG00000173391 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000173402 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive +ENSG00000173406 Spinocerebellar ataxia 37, 615945 (3), Autosomal dominant +ENSG00000173409 Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive +ENSG00000173540 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive +ENSG00000173575 Epileptic encephalopathy, childhood-onset, 615369 (3), Autosomal dominant +ENSG00000173588 Nephronophthisis 18, 615862 (3), Autosomal recessive +ENSG00000173599 Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive +ENSG00000173614 Leber congenital amaurosis 9, 608553 (3), Autosomal recessive +ENSG00000173698 Congenital bilateral absence of vas deferens, X-linked, 300985 (3), X-linked +ENSG00000173757 Growth hormone insensitivity with immunodeficiency, 245590 (3); Leukemia, acute promyelocytic, somatic, 102578 (3) +ENSG00000173801 Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant; Naxos disease, 601214 (3), Autosomal recessive +ENSG00000173821 {Moyamoya disease 2, susceptibility to}, 607151 (3) +ENSG00000173894 ?46XY sex reversal 5, 613080 (3), Autosomal recessive +ENSG00000173898 Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive +ENSG00000173976 Cone-rod dystrophy 11, 610381 (3), Autosomal dominant; ?Macular degeneration, age-related, 6, 613757 (3) +ENSG00000173991 Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive +ENSG00000174007 Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive +ENSG00000174010 Mental retardation, X-linked 103, 300982 (3), X-linked recessive +ENSG00000174080 Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3), Autosomal recessive +ENSG00000174099 Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive +ENSG00000174106 Buschke-Ollendorff syndrome, 166700 (3), Autosomal dominant; Osteopoikilosis with or without melorheostosis, 166700 (3), Autosomal dominant +ENSG00000174125 {Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3) +ENSG00000174173 Combined oxidative phosphorylation deficiency 30, 616974 (3), Autosomal recessive +ENSG00000174177 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3) +ENSG00000174227 Mental retardation, autosomal recessive 53, 616917 (3), Autosomal recessive +ENSG00000174231 Retinitis pigmentosa 13, 600059 (3), Autosomal dominant +ENSG00000174233 ?Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive +ENSG00000174358 Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive +ENSG00000174405 LIG4 syndrome, 606593 (3), Autosomal recessive; {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation +ENSG00000174417 Thyrotropin-releasing hormone resistance, generalized (3) +ENSG00000174437 Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier disease, 124200 (3), Autosomal dominant +ENSG00000174469 {Autism susceptibility 15}, 612100 (3); Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive; Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive +ENSG00000174483 Bardet-Biedl syndrome 1, 209900 (3), Autosomal recessive, Digenic recessive +ENSG00000174611 Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive +ENSG00000174640 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive +ENSG00000174684 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive +ENSG00000174697 Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive +ENSG00000174705 Frank-ter Haar syndrome, 249420 (3), Autosomal recessive +ENSG00000174720 Alazami syndrome, 615071 (3), Autosomal recessive +ENSG00000174748 ?Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant +ENSG00000174775 {Bladder cancer, somatic}, 109800 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant, Isolated cases; Costello syndrome, 218040 (3), Autosomal dominant, Isolated cases; {Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); {Spitz nevus or nevus spilus, somatic}, 137550 (3); {Thyroid carcinoma, follicular, somatic}, 188470 (3) +ENSG00000174780 Bone marrow failure syndrome 1, 614675 (3), Autosomal dominant +ENSG00000174792 Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive +ENSG00000174799 Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive +ENSG00000174804 Exudative vitreoretinopathy 1, 133780 (3), Autosomal dominant; Retinopathy of prematurity, 133780 (3), Autosomal dominant +ENSG00000174842 Glomuvenous malformations, 138000 (3), Autosomal dominant +ENSG00000174886 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000174951 [Bombay phenotype], 616754 (3), Autosomal recessive +ENSG00000174990 Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive +ENSG00000174996 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3), Autosomal recessive +ENSG00000175054 ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant; Seckel syndrome 1, 210600 (3), Autosomal recessive +ENSG00000175065 Hypotrichosis 6, 607903 (3), Autosomal recessive +ENSG00000175084 Cardiomyopathy, dilated, 1I, 604765 (3); Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant +ENSG00000175097 Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive +ENSG00000175110 Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive; Ovarian dysgenesis 7, 618117 (3) +ENSG00000175115 Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant +ENSG00000175164 [Blood group, ABO system], 616093 (3) +ENSG00000175198 Propionicacidemia, 606054 (3), Autosomal recessive +ENSG00000175206 Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant; Atrial standstill 2, 615745 (3), Autosomal recessive +ENSG00000175213 ?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant; Retinitis pigmentosa 72, 616469 (3), Autosomal recessive +ENSG00000175283 Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive +ENSG00000175294 Spermatogenic failure 7, 612997 (3), Autosomal recessive +ENSG00000175309 [?Phosphohydroxylysinuria], 615011 (3) +ENSG00000175325 Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive +ENSG00000175334 Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive +ENSG00000175426 Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ12}, 612362 (3) +ENSG00000175445 Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant; [High density lipoprotein cholesterol level QTL 11] (3); Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive +ENSG00000175505 Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive +ENSG00000175535 ?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive +ENSG00000175536 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3), Autosomal recessive +ENSG00000175538 Brugada syndrome 6, 613119 (3) +ENSG00000175544 Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive +ENSG00000175564 {Obesity, severe, and type II diabetes}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000175567 {Obesity, susceptibility to, BMIQ4}, 607447 (3) +ENSG00000175595 Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; ?XFE progeroid syndrome, 610965 (3); Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive +ENSG00000175600 Glutaric aciduria III, 231690 (3), Autosomal recessive +ENSG00000175606 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive +ENSG00000175707 ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3), Autosomal dominant +ENSG00000175745 Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3), Autosomal dominant +ENSG00000175894 ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive +ENSG00000175899 Alpha-2-macroglobulin deficiency, 614036 (1), Autosomal dominant; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant +ENSG00000175920 ?Fetal akinesia deformation sequence, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive +ENSG00000176014 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3), Autosomal dominant +ENSG00000176022 Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive +ENSG00000176058 Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive +ENSG00000176165 Rett syndrome, congenital variant, 613454 (3), Autosomal dominant +ENSG00000176225 Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive +ENSG00000176340 ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000176387 Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive +ENSG00000176619 ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive; {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant +ENSG00000176692 Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant +ENSG00000176715 Combined malonic and methylmalonic aciduria, 614265 (3) +ENSG00000176842 Hamamy syndrome, 611174 (3), Autosomal recessive +ENSG00000176884 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive +ENSG00000176887 Mental retardation, autosomal dominant 27, 615866 (3), Autosomal dominant +ENSG00000176915 ?Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive +ENSG00000176920 [Bombay phenotype] (3); {Norwalk virus infection, resistance to} (3); {Vitamin B12 plasma level QTL1}, 612542 (3) +ENSG00000177000 Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant; {Vascular disease, susceptibility to} (3) +ENSG00000177030 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3), Autosomal recessive; Mental retardation, autosomal dominant 24, 615828 (3), Autosomal dominant +ENSG00000177045 Branchiootorenal syndrome 2, 610896 (3) +ENSG00000177082 Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive +ENSG00000177084 {Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant; FILS syndrome, 615139 (3), Autosomal recessive +ENSG00000177098 Atrial fibrillation, familial, 17, 611819 (3), Autosomal dominant; Long QT syndrome-10, 611819 (3), Autosomal dominant +ENSG00000177106 Deafness autosomal recessive 106, 617637 (3), Autosomal recessive +ENSG00000177119 Scott syndrome, 262890 (3), Autosomal recessive +ENSG00000177156 Transaldolase deficiency, 606003 (3), Autosomal recessive +ENSG00000177189 Coffin-Lowry syndrome, 303600 (3), X-linked dominant, Isolated cases; Mental retardation, X-linked 19, 300844 (3), X-linked dominant +ENSG00000177192 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive +ENSG00000177239 Mental retardation, autosomal recessive 15, 614202 (3), Autosomal recessive +ENSG00000177301 Epileptic encephalopathy, early infantile, 32, 616366 (3), Autosomal dominant +ENSG00000177302 Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive +ENSG00000177409 Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant +ENSG00000177426 Holoprosencephaly 4, 142946 (3), Autosomal dominant +ENSG00000177455 Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive +ENSG00000177469 Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive +ENSG00000177542 Epileptic encephalopathy, early infantile, 3, 609304 (3), Autosomal recessive +ENSG00000177565 Mental retardation, autosomal dominant 41, 616944 (3), Autosomal dominant; Pierpont syndrome, 602342 (3), Autosomal dominant +ENSG00000177570 Epilepsy, familial adult myoclonic, 1, 601068 (3), Autosomal dominant +ENSG00000177628 Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, type II, 230900 (3), Autosomal recessive; Gaucher disease, type III, 231000 (3), Autosomal recessive; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial +ENSG00000177646 Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3), Autosomal recessive +ENSG00000177663 Immunodeficiency 51, 613953 (3), Autosomal recessive +ENSG00000177666 Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive +ENSG00000177688 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3) +ENSG00000177697 [Blood group, Raph], 179620 (3); Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) +ENSG00000177706 Raine syndrome, 259775 (3), Autosomal recessive +ENSG00000177807 Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive +ENSG00000177954 ?Diamond-Blackfan anemia 17, 617409 (3), Autosomal dominant +ENSG00000177990 Spermatogenic failure 9, 613958 (3), Autosomal recessive +ENSG00000178035 [IMPDH2 enzyme activity, variation in], 617995 (3) +ENSG00000178057 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000178127 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000178209 Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive; ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive +ENSG00000178222 Recombination rate QTL 1, 612042 (3) +ENSG00000178235 Tourette syndrome, 137580 (3), Autosomal dominant; ?Trichotillomania, 613229 (3), Autosomal dominant, Multifactorial +ENSG00000178394 Periodic fever, menstrual cycle dependent, 614674 (3), Autosomal dominant +ENSG00000178445 Glycine encephalopathy, 605899 (3), Autosomal recessive +ENSG00000178449 ?Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000178522 Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive +ENSG00000178537 Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive +ENSG00000178538 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive +ENSG00000178568 Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant +ENSG00000178573 Ayme-Gripp syndrome, 601088 (3), Autosomal dominant; Cataract 21, multiple types, 610202 (3), Autosomal dominant +ENSG00000178726 {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3), Autosomal dominant; Thrombophilia due to thrombomodulin defect, 614486 (3) +ENSG00000178802 Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive +ENSG00000178814 5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant +ENSG00000178919 Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant +ENSG00000178952 Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive +ENSG00000178971 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive +ENSG00000179029 ?Joubert syndrome 29, 617562 (3), Autosomal recessive; Meckel syndrome 13, 617562 (3), Autosomal recessive; Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive +ENSG00000179085 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3) +ENSG00000179091 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive +ENSG00000179111 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive +ENSG00000179142 Aldosterone to renin ratio raised (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive; Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive; {Low renin hypertension, susceptibility to} (3) +ENSG00000179148 Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive +ENSG00000179151 ?Mental retardation, autosomal recessive 50, 616460 (3), Autosomal recessive +ENSG00000179163 Fucosidosis, 230000 (3), Autosomal recessive +ENSG00000179218 Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) +ENSG00000179270 Retinitis pigmentosa 54, 613428 (3) +ENSG00000179295 LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3); Metachondromatosis, 156250 (3), Autosomal dominant; Noonan syndrome 1, 163950 (3), Autosomal dominant +ENSG00000179344 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant; {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial +ENSG00000179348 Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Leukemia, acute myeloid, susceptibility to}, 601626 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3) +ENSG00000179364 Epileptic encephalopathy, early infantile, 66, 618067 (3), Autosomal dominant +ENSG00000179409 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive +ENSG00000179455 Precocious puberty, central, 2, 615346 (3), Autosomal dominant +ENSG00000179456 Mental retardation, autosomal dominant 22, 612337 (3), Autosomal dominant +ENSG00000179477 Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive +ENSG00000179520 Deafness, autosomal dominant 25, 605583 (3), Autosomal dominant +ENSG00000179583 Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3) +ENSG00000179627 ?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive +ENSG00000179774 Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive +ENSG00000179855 Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive +ENSG00000179915 Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3) +ENSG00000179941 Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive +ENSG00000179950 Verheij syndrome, 615583 (3), Autosomal dominant +ENSG00000179981 Aural atresia, congenital, 607842 (3), Autosomal dominant +ENSG00000180053 Conotruncal heart malformations, 217095 (3); Persistent truncus arteriosus, 217095 (3) +ENSG00000180176 Segawa syndrome, recessive, 605407 (3), Autosomal recessive +ENSG00000180210 Dysprothrombinemia, 613679 (3), Autosomal recessive; Hypoprothrombinemia, 613679 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant +ENSG00000180228 Dystonia 16, 612067 (3), Autosomal recessive +ENSG00000180316 Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive +ENSG00000180318 ?Frontonasal dysplasia 3, 613456 (3) +ENSG00000180398 Factor V and factor VIII, combined deficiency of, 613625 (3) +ENSG00000180509 Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive; Long QT syndrome 5, 613695 (3), Autosomal dominant +ENSG00000180644 Aplastic anemia, 609135 (3); Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Lymphoma, non-Hodgkin, 605027 (3) +ENSG00000180875 Tooth agenesis, selective, 9, 617275 (3), Autosomal dominant +ENSG00000180879 Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive +ENSG00000180902 D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive +ENSG00000180921 Amelogenesis imperfecta, type IIIA, 130900 (3), Autosomal dominant +ENSG00000181004 Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive +ENSG00000181019 {Benzene toxicity, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3); {Leukemia, post-chemotherapy, susceptibility to} (3) +ENSG00000181027 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive +ENSG00000181038 Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive +ENSG00000181090 Kleefstra syndrome 1, 610253 (3), Autosomal dominant +ENSG00000181092 Adiponectin deficiency, 612556 (3) +ENSG00000181163 Leukemia, acute myeloid, somatic, 601626 (3) +ENSG00000181192 2-aminoadipic 2-oxoadipic aciduria, 204750 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant +ENSG00000181392 Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive +ENSG00000181449 Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant +ENSG00000181481 Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3) +ENSG00000181523 Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive +ENSG00000181541 Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant +ENSG00000181544 Fanconi anemia, complementation group B, 300514 (3), X-linked recessive +ENSG00000181555 Luscan-Lumish syndrome, 616831 (3), Autosomal dominant +ENSG00000181585 Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive +ENSG00000181656 ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive +ENSG00000181690 Adenomas, salivary gland pleomorphic, somatic, 181030 (3) +ENSG00000181722 Primrose syndrome, 259050 (3), Autosomal dominant +ENSG00000181804 {?Autism susceptibility 16}, 613410 (3) +ENSG00000181830 Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive +ENSG00000181873 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive; ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive +ENSG00000182004 Hypotrichosis 11, 615059 (3), Autosomal dominant +ENSG00000182040 Usher syndrome, type 1G, 606943 (3), Autosomal recessive +ENSG00000182054 D-2-hydroxyglutaric aciduria 2, 613657 (3) +ENSG00000182117 Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive +ENSG00000182150 Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive +ENSG00000182173 Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive +ENSG00000182180 Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive +ENSG00000182187 Cataract 39, multiple types, autosomal dominant, 615188 (3), Autosomal dominant +ENSG00000182197 Chondrosarcoma, 215300 (3), Autosomal recessive; Exostoses, multiple, type 1, 133700 (3), Autosomal dominant +ENSG00000182220 Mental retardation, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive +ENSG00000182287 Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive +ENSG00000182326 C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3), Autosomal dominant +ENSG00000182372 Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive +ENSG00000182389 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; Episodic ataxia, type 5, 613855 (3), Autosomal dominant +ENSG00000182400 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3) +ENSG00000182492 Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive +ENSG00000182512 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive +ENSG00000182533 Cardiomyopathy, familial hypertrophic, 192600 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant; Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Rippling muscle disease, 606072 (3), Autosomal dominant +ENSG00000182578 Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant +ENSG00000182621 Epileptic encephalopathy, early infantile, 12, 613722 (3), Autosomal recessive +ENSG00000182636 Prader-Willi syndrome, 176270 (3), Isolated cases +ENSG00000182759 Insulinomatosis and diabetes mellitus, 147630 (3), Autosomal dominant +ENSG00000182774 Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant +ENSG00000182858 Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive +ENSG00000182866 ?Immunodeficiency 22, 615758 (3), Autosomal recessive +ENSG00000182871 Knobloch syndrome, type 1, 267750 (3), Autosomal recessive +ENSG00000182872 TARP syndrome, 311900 (3), X-linked recessive +ENSG00000182890 {Parkinson disease, age of onset, modifier}, 168600 (3), Isolated cases, Multifactorial +ENSG00000182899 Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant +ENSG00000182923 ?Seckel syndrome 6, 614728 (3), Autosomal recessive +ENSG00000182944 Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3) +ENSG00000183010 Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIIB, 614438 (3) +ENSG00000183044 GABA-transaminase deficiency, 613163 (3), Autosomal recessive +ENSG00000183072 Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant; Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Ventricular septal defect 3, 614432 (3), Autosomal dominant +ENSG00000183091 Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive +ENSG00000183098 Omodysplasia 1, 258315 (3), Autosomal recessive +ENSG00000183161 Fanconi anemia, complementation group F, 603467 (3) +ENSG00000183196 Macular corneal dystrophy, 217800 (3), Autosomal recessive +ENSG00000183230 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3), Autosomal dominant +ENSG00000183258 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3), Autosomal dominant +ENSG00000183287 Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive +ENSG00000183337 Microphthalmia, syndromic 2, 300166 (3), X-linked dominant +ENSG00000183421 CHAND syndrome, 214350 (3), Autosomal recessive; Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3), Autosomal recessive +ENSG00000183423 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive +ENSG00000183454 Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3), Autosomal dominant +ENSG00000183513 ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3), Autosomal recessive +ENSG00000183597 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3), Autosomal recessive +ENSG00000183605 Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive +ENSG00000183638 Occult macular dystrophy, 613587 (3), Autosomal dominant +ENSG00000183691 Brachydactyly, type B2, 611377 (3), Autosomal dominant; Multiple synostoses syndrome 1, 186500 (3), Autosomal dominant; Stapes ankylosis with broad thumbs and toes, 184460 (3), Autosomal dominant; Symphalangism, proximal, 1A, 185800 (3), Autosomal dominant; Tarsal-carpal coalition syndrome, 186570 (3), Autosomal dominant +ENSG00000183715 {Ovarian cancer, somatic}, 167000 (3) +ENSG00000183733 Premature ovarian failure 6, 612310 (3), Autosomal dominant +ENSG00000183735 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3), Autosomal dominant +ENSG00000183762 Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive +ENSG00000183763 Seckel syndrome 9, 616777 (3), Autosomal recessive +ENSG00000183765 {Breast and colorectal cancer, susceptibility to} (3); {Breast cancer, susceptibility to}, 114480 (3), Autosomal dominant; Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3), Autosomal dominant +ENSG00000183770 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant +ENSG00000183785 Cortical dysplasia, complex, with other brain malformations 8, 613180 (3), Autosomal recessive +ENSG00000183873 Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3), Autosomal dominant; Long QT syndrome-3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3) +ENSG00000183918 Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive +ENSG00000184009 Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant; Deafness, autosomal dominant 20/26, 604717 (3), Autosomal dominant +ENSG00000184014 Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive +ENSG00000184047 Deafness, autosomal dominant 64, 614152 (3), Autosomal dominant +ENSG00000184056 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive +ENSG00000184058 Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome, 188400 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Velocardiofacial syndrome, 192430 (3), Autosomal dominant +ENSG00000184144 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive +ENSG00000184154 Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive +ENSG00000184156 Seizures, benign neonatal, 2, 121201 (3), Autosomal dominant +ENSG00000184160 {Congestive heart failure and beta-blocker response, modifier of} (3) +ENSG00000184254 Microphthalmia, isolated 8, 615113 (3), Autosomal recessive +ENSG00000184292 Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive +ENSG00000184302 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive +ENSG00000184304 Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal dominant +ENSG00000184344 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3), Autosomal dominant; Microphthalmia, isolated 7, 613704 (3), Autosomal dominant +ENSG00000184374 3MC syndrome 3, 248340 (3), Autosomal recessive +ENSG00000184381 Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive; Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive +ENSG00000184384 Mucoepidermoid salivary gland carcinoma (3) +ENSG00000184432 ?Microcephaly 19, primary, autosomal recessive, 617800 (3), Autosomal recessive +ENSG00000184470 ?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive +ENSG00000184500 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive +ENSG00000184564 Deafness and myopia, 221200 (3), Autosomal recessive +ENSG00000184584 STING-associated vasculopathy, infantile-onset, 615934 (3), Autosomal dominant +ENSG00000184634 Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive +ENSG00000184640 Amyotrophy, hereditary neuralgic, 162100 (3), Autosomal dominant; Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1) +ENSG00000184675 Osteopathia striata with cranial sclerosis, 300373 (3), X-linked dominant +ENSG00000184743 Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant +ENSG00000184752 Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3), Autosomal recessive, Mitochondrial +ENSG00000184895 46XX sex reversal 1, 400045 (3); 46XY sex reversal 1, 400044 (3) +ENSG00000184908 Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive +ENSG00000184937 Denys-Drash syndrome, 194080 (3), Autosomal dominant, Somatic mutation; Frasier syndrome, 136680 (3), Autosomal dominant, Somatic mutation; Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3); Nephrotic syndrome, type 4, 256370 (3), Autosomal dominant; Wilms tumor, type 1, 194070 (3), Autosomal dominant, Somatic mutation +ENSG00000184979 Pseudo-TORCH syndrome 2, 617397 (3), Autosomal recessive +ENSG00000184983 Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000185000 ?Diarrhea 7, 615863 (3), Autosomal recessive +ENSG00000185002 Mitchell-Riley syndrome, 615710 (3), Autosomal recessive +ENSG00000185008 Vesicoureteral reflux 2, 610878 (3) +ENSG00000185010 Hemophilia A, 306700 (3), X-linked recessive +ENSG00000185024 Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive +ENSG00000185100 Myopathy, distal, 5, 617030 (3), Autosomal recessive +ENSG00000185115 Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive +ENSG00000185129 Mental retardation, autosomal dominant 31, 616158 (3), Autosomal dominant +ENSG00000185231 Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive +ENSG00000185236 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3), Autosomal dominant +ENSG00000185245 Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant +ENSG00000185303 Pulmonary fibrosis, idiopathic, 178500 (3), Autosomal dominant +ENSG00000185313 Episodic pain syndrome, familial, 2, 615551 (3), Autosomal dominant +ENSG00000185324 Al Kaissi syndrome, 617694 (3), Autosomal recessive +ENSG00000185339 Transcobalamin II deficiency, 275350 (3), Autosomal recessive +ENSG00000185344 Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive; Wrinkly skin syndrome, 278250 (3), Autosomal recessive +ENSG00000185345 Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3); Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive +ENSG00000185379 {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) +ENSG00000185479 Pachyonychia congenita 4, 615728 (3) +ENSG00000185482 Myopathy, congenital, Baily-Bloch, 255995 (3), Autosomal recessive +ENSG00000185483 ?Deafness, autosomal recessive 108, 617654 (3), Autosomal recessive +ENSG00000185499 Medullary cystic kidney disease 1, 174000 (3), Autosomal dominant +ENSG00000185507 ?Immunodeficiency 39, 616345 (3), Autosomal recessive +ENSG00000185527 Retinitis pigmentosa 57, 613582 (3), Autosomal recessive +ENSG00000185532 Aortic aneurysm, familial thoracic 8, 615436 (3), Autosomal dominant +ENSG00000185551 Congenital heart defects, multiple types, 4, 615779 (3), Autosomal dominant +ENSG00000185624 Cole-Carpenter syndrome 1, 112240 (3), Autosomal dominant +ENSG00000185630 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3), Autosomal dominant +ENSG00000185760 Mental retardation, autosomal dominant 46, 617601 (3), Autosomal dominant +ENSG00000185803 Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive +ENSG00000185808 ?Epileptic encephalopathy, early infantile, 55, 617599 (3), Autosomal recessive +ENSG00000185811 Immunodeficiency, common variable, 13, 616873 (3), Autosomal dominant +ENSG00000185818 ?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive +ENSG00000185825 Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive +ENSG00000185900 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive +ENSG00000185909 {Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive +ENSG00000185920 Basal cell carcinoma, somatic, 605462 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Holoprosencephaly 7, 610828 (3), Autosomal dominant +ENSG00000185950 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant +ENSG00000185960 Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3),Langer mesomelic dysplasia, 249700 (3), Autosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Autosomal dominant; Short stature, idiopathic familial, 300582 (3) +ENSG00000185963 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3), Autosomal dominant +ENSG00000185973 {Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive +ENSG00000185974 Oguchi disease-2, 613411 (3) +ENSG00000186010 ?Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial; {Thyroid carcinoma, Hurthle cell}, 607464 (3) +ENSG00000186051 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) +ENSG00000186073 Dyserythropoietic anemia, congenital, type Ib, 615631 (3), Autosomal recessive +ENSG00000186081 Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant +ENSG00000186104 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3), Autosomal recessive +ENSG00000186111 Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive +ENSG00000186153 Epileptic encephalopathy, early infantile, 28, 616211 (3), Autosomal recessive; Esophageal squamous cell carcinoma, somatic, 133239 (3); Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive +ENSG00000186184 Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant +ENSG00000186188 {Obesity, susceptibility to}, 607514 (3) +ENSG00000186197 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive +ENSG00000186326 Bradyopsia, 608415 (3) +ENSG00000186335 Hyperglycinuria, 138500 (3), Autosomal dominant; Iminoglycinuria, digenic, 242600 (3), Autosomal recessive, Digenic recessive +ENSG00000186340 {Lumbar disc herniation, susceptibility to}, 603932 (3) +ENSG00000186395 Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant +ENSG00000186417 Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive +ENSG00000186439 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive +ENSG00000186442 Meesmann corneal dystrophy, 122100 (3), Autosomal dominant +ENSG00000186468 Brachycephaly, trichomegaly, and developmental delay, 617412 (3), Autosomal dominant +ENSG00000186472 ?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive +ENSG00000186487 Mental retardation, autosomal dominant 39, 616521 (3), Autosomal dominant +ENSG00000186510 Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive +ENSG00000186575 Meningioma, NF2-related, somatic, 607174 (3); Neurofibromatosis, type 2, 101000 (3), Autosomal dominant; Schwannomatosis, somatic, 162091 (3) +ENSG00000186687 Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive +ENSG00000186716 Leukemia, acute lymphocytic, somatic, 613065 (3); Leukemia, chronic myeloid, somatic, 608232 (3) +ENSG00000186765 Retinitis pigmentosa 30, 607921 (3) +ENSG00000186790 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant; Cataract 34, multiple types, 612968 (3) +ENSG00000186795 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3) +ENSG00000186827 ?Immunodeficiency 16, 615593 (3), Autosomal recessive +ENSG00000186832 Pachyonychia congenita 1, 167200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3), Autosomal dominant +ENSG00000186847 Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant +ENSG00000186862 Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive +ENSG00000186868 Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Pick disease, 172700 (3), Autosomal dominant, Isolated cases; Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive +ENSG00000186895 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive +ENSG00000186951 {Hyperapobetalipoproteinemia, susceptibility to} (3) +ENSG00000187010 [Rh-negative blood type] (3) +ENSG00000187017 Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) +ENSG00000187045 Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive +ENSG00000187049 Joubert syndrome 2, 608091 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive +ENSG00000187079 Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant +ENSG00000187091 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant +ENSG00000187098 COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3), Autosomal dominant +ENSG00000187140 {Autoimmune disease, susceptibility to, 1}, 607836 (3), Autosomal dominant +ENSG00000187240 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Autosomal recessive, Digenic recessive +ENSG00000187242 Meesmann corneal dystrophy, 122100 (3), Autosomal dominant +ENSG00000187244 [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3) +ENSG00000187258 {Asthma, susceptibility to, 2}, 608584 (3) +ENSG00000187266 [Erythrocytosis, familial, 1], 133100 (3), Autosomal dominant +ENSG00000187288 ?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive +ENSG00000187323 Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant +ENSG00000187391 Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive +ENSG00000187486 Diabetes mellitus, transient neonatal, 3, 610582 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Diabetes, permanent neonatal, with or without neurologic features, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive; Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant +ENSG00000187498 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3), Autosomal dominant; Brain small vessel disease with or without ocular anomalies, 607595 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Porencephaly 1, 175780 (3), Autosomal dominant; ?Retinal arteries, tortuosity of, 180000 (3), Autosomal dominant; Schizencephaly, 269160 (3) +ENSG00000187535 Retinitis pigmentosa 80, 617781 (3), Autosomal recessive; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive +ENSG00000187553 Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive +ENSG00000187554 {Legionnaire disease, susceptibility to}, 608556 (3); {Melioidosis, susceptibility to}, 615557 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3) +ENSG00000187566 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive +ENSG00000187608 Immunodeficiency 38, 616126 (3), Autosomal recessive +ENSG00000187616 Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive +ENSG00000187676 Peters-plus syndrome, 261540 (3), Autosomal recessive +ENSG00000187678 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3), Autosomal dominant +ENSG00000187689 ?Amelogenesis imperfecta, type IIIB, 617607 (3), Autosomal dominant +ENSG00000187714 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3), Autosomal recessive +ENSG00000187726 Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive +ENSG00000187730 {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, 10}, 613060 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3), Autosomal dominant +ENSG00000187736 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) +ENSG00000187741 Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive +ENSG00000187742 Thyroid hormone metabolism, abnormal, 609698 (3) +ENSG00000187790 ?Premature ovarian failure 15, 618096 (3), Autosomal recessive; Spermatogenic failure 28, 618086 (3), Autosomal recessive +ENSG00000187796 Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive +ENSG00000187848 Deafness, autosomal dominant 41, 608224 (3), Autosomal dominant +ENSG00000188021 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3), X-linked dominant +ENSG00000188037 Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia levior, recessive (3) +ENSG00000188107 Retinitis pigmentosa 25, 602772 (3), Autosomal recessive +ENSG00000188153 Alport syndrome, 301050 (3), X-linked dominant +ENSG00000188157 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive +ENSG00000188158 Cataract 40, X-linked, 302200 (3), X-linked; Nance-Horan syndrome, 302350 (3), X-linked dominant +ENSG00000188162 Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive +ENSG00000188229 Leber congenital amaurosis with early-onset deafness, 617879 (3), Autosomal dominant +ENSG00000188257 {Colorectal cancer}, 114500 (3), Autosomal dominant +ENSG00000188372 Oocyte maturation defect 3, 617712 (3), Autosomal dominant +ENSG00000188389 {Multiple sclerosis, disease progression, modifier of}, 126200 (3), Multifactorial; {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3) +ENSG00000188419 Choroideremia, 303100 (3), X-linked dominant +ENSG00000188452 Retinitis pigmentosa 26, 608380 (3) +ENSG00000188467 Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive; [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive +ENSG00000188517 Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive +ENSG00000188536 Erythrocytosis 7, 617981 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hemoglobin H disease, deletional and nondeletional, 613978 (3); Thalassemia, alpha-, 604131 (3) +ENSG00000188603 Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive +ENSG00000188613 Spermatogenic failure 12, 615413 (3), Autosomal dominant +ENSG00000188641 Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive +ENSG00000188672 [Blood group, Rhesus] (3); Rh-null disease, amorph type, 617970 (3) +ENSG00000188690 Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive +ENSG00000188706 Mental retardation, X-linked syndromic, Raymond type, 300799 (3) +ENSG00000188738 Spermatogenic failure 34, 618153 (3) +ENSG00000188778 {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000188827 Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive +ENSG00000188906 {Parkinson disease 8}, 607060 (3), Autosomal dominant +ENSG00000188910 Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, autosomal recessive (3); Deafness, digenic, GJB2/GJB3, 220290 (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant +ENSG00000188937 Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive +ENSG00000188992 {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant +ENSG00000189056 {Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive +ENSG00000189057 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3), Autosomal dominant +ENSG00000189067 Charcot-Marie-Tooth disease, type 1C, 601098 (3), Autosomal dominant +ENSG00000189079 Coffin-Siris syndrome 6, 617808 (3), Autosomal dominant +ENSG00000189114 Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive +ENSG00000189221 {Antisocial behavior}, 300615 (3), X-linked recessive; Brunner syndrome, 300615 (3), X-linked recessive +ENSG00000189241 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive +ENSG00000189433 Erythrokeratodermia variabilis et progressiva 2, 617524 (3), Autosomal dominant +ENSG00000196091 Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive +ENSG00000196092 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3) +ENSG00000196116 Cataract 36, 613887 (3), Autosomal recessive +ENSG00000196126 {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000 (3), Autosomal dominant +ENSG00000196136 Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3) +ENSG00000196159 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive; Van Maldergem syndrome 2, 615546 (3), Autosomal recessive +ENSG00000196177 2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive +ENSG00000196189 Cone-rod dystrophy 10, 610283 (3), Autosomal recessive; Retinitis pigmentosa 35, 610282 (3), Autosomal recessive, Autosomal dominant +ENSG00000196218 Central core disease, 117000 (3), Autosomal recessive, Autosomal dominant; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal recessive, Autosomal dominant +ENSG00000196230 Cortical dysplasia, complex, with other brain malformations 6, 615771 (3), Autosomal dominant; Symmetric circumferential skin creases, congenital, 1, 156610 (3), Autosomal dominant +ENSG00000196236 Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive +ENSG00000196296 Brody myopathy, 601003 (3), Autosomal recessive +ENSG00000196305 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive +ENSG00000196338 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3), Isolated cases, X-linked, Multifactorial; {Autism susceptibility, X-linked 1}, 300425 (3), Isolated cases, X-linked, Multifactorial +ENSG00000196352 [Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive +ENSG00000196365 CODAS syndrome, 600373 (3), Autosomal recessive +ENSG00000196396 {Insulin resistance, susceptibility to}, 125853 (3), Autosomal dominant +ENSG00000196411 {Hydrops fetalis, nonimmune, and/or atrial septal defect}, 617300 (3), Autosomal dominant +ENSG00000196431 Cataract 23, 610425 (3) +ENSG00000196459 Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive +ENSG00000196468 Metacarpal 4-5 fusion, 309630 (3), X-linked recessive +ENSG00000196511 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive +ENSG00000196517 Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive +ENSG00000196549 Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant +ENSG00000196557 {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3), Autosomal dominant +ENSG00000196565 Cyanosis, transient neonatal, 613977 (3), Autosomal dominant; Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant +ENSG00000196569 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive +ENSG00000196584 ?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive +ENSG00000196586 Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant; Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive +ENSG00000196588 Megakaryoblastic leukemia, acute (3) +ENSG00000196611 COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive +ENSG00000196616 {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3), Multifactorial; {Alcohol dependence, protection against}, 103780 (3), Multifactorial +ENSG00000196628 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant; Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant +ENSG00000196660 Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive +ENSG00000196663 Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive +ENSG00000196712 Leukemia, juvenile myelomonocytic, 607785 (3), Autosomal dominant, Somatic mutation; Neurofibromatosis, familial spinal, 162210 (3), Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal dominant; Watson syndrome, 193520 (3), Autosomal dominant +ENSG00000196735 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial +ENSG00000196739 Steel syndrome, 615155 (3), Autosomal recessive +ENSG00000196743 GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive +ENSG00000196767 Deafness, X-linked 2, 304400 (3), X-linked recessive +ENSG00000196811 Escobar syndrome, 265000 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive +ENSG00000196839 Adenosine deaminase deficiency, partial, 102700 (3), Autosomal recessive, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Autosomal recessive, Somatic mosaicism +ENSG00000196876 ?Cognitive impairment with or without cerebellar ataxia, 614306 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 13, 614558 (3), Autosomal dominant; Seizures, benign familial infantile, 5, 617080 (3), Autosomal dominant +ENSG00000196878 Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive +ENSG00000196924 Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked recessive; Congenital short bowel syndrome, 300048 (3), X-linked recessive; ?FG syndrome 2, 300321 (3), X-linked; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive; Heterotopia, periventricular, 300049 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant +ENSG00000196935 {Thyroid cancer, nonmedullary, 2}, 188470 (3), Autosomal dominant +ENSG00000196976 Galloway-Mowat syndrome 2, X-linked, 301006 (3), X-linked recessive +ENSG00000196998 Neurodegeneration with brain iron accumulation 5, 300894 (3), X-linked dominant +ENSG00000197081 Hepatocellular carcinoma, somatic, 114550 (3) +ENSG00000197102 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3), Autosomal dominant; Mental retardation, autosomal dominant 13, 614563 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3), Autosomal dominant +ENSG00000197106 Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive +ENSG00000197110 {Hepatitis C virus infection, response to therapy of}, 609532 (3) +ENSG00000197121 Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive +ENSG00000197122 Colon cancer, advanced, somatic, 114500 (3); ?Thrombocytopenia 6, 616937 (3), Autosomal dominant +ENSG00000197170 Stankiewicz-Isidor syndrome, 617516 (3), Autosomal dominant +ENSG00000197208 {Rheumatoid arthritis, susceptibility to}, 180300 (3) +ENSG00000197249 Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive; Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1) +ENSG00000197256 Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive; Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive +ENSG00000197265 Trichothiodystrophy 6, nonphotosensitive, 616943 (3), Autosomal recessive +ENSG00000197275 Colon cancer, somatic, 114500 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) +ENSG00000197283 Mental retardation, autosomal dominant 5, 612621 (3), Autosomal dominant +ENSG00000197299 Bloom syndrome, 210900 (3), Autosomal recessive +ENSG00000197375 Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive +ENSG00000197386 Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive +ENSG00000197408 {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3); Efavirenz, poor metabolism of, 614546 (3) +ENSG00000197417 [Sedoheptulokinase deficiency], 617213 (3), Autosomal recessive +ENSG00000197467 Myasthenic syndrome, congenital, 19, 616720 (3), Autosomal recessive +ENSG00000197496 Arterial tortuosity syndrome, 208050 (3), Autosomal recessive +ENSG00000197535 Griscelli syndrome, type 1, 214450 (3), Autosomal recessive +ENSG00000197561 Neutropenia, cyclic, 162800 (3), Autosomal dominant; Neutropenia, severe congenital 1, autosomal dominant, 202700 (3), Autosomal dominant +ENSG00000197563 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive +ENSG00000197565 ?Deafness, X-linked 6, 300914 (3), X-linked recessive +ENSG00000197579 Retinitis pigmentosa 31, 609923 (3) +ENSG00000197594 Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; {Obesity, susceptibility to}, 601665 (3), Autosomal recessive, Autosomal dominant, Multifactorial +ENSG00000197601 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive +ENSG00000197603 Joubert syndrome 17, 614615 (3), Autosomal recessive; Orofaciodigital syndrome VI, 277170 (3), Autosomal recessive +ENSG00000197614 Aortic aneurysm, familial thoracic 9, 616166 (3), Autosomal dominant +ENSG00000197616 Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant; {Sick sinus syndrome 3}, 614090 (3) +ENSG00000197694 Epileptic encephalopathy, early infantile, 5, 613477 (3), Autosomal dominant +ENSG00000197728 Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant +ENSG00000197746 Combined SAP deficiency, 611721 (3), Autosomal recessive; Gaucher disease, atypical, 610539 (3); Krabbe disease, atypical, 611722 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive +ENSG00000197748 Spermatogenic failure 19, 617592 (3), Autosomal recessive +ENSG00000197753 Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive +ENSG00000197766 Complement factor D deficiency, 613912 (3), Autosomal recessive +ENSG00000197780 Mental retardation, autosomal recessive 60, 617432 (3), Autosomal recessive +ENSG00000197785 Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant +ENSG00000197822 Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive +ENSG00000197858 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive +ENSG00000197859 Geleophysic dysplasia 1, 231050 (3), Autosomal recessive +ENSG00000197888 {Bone mineral density QTL 12, osteoporosis}, 612560 (3) +ENSG00000197891 Hypouricemia, renal, 220150 (3), Autosomal recessive +ENSG00000197912 Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant +ENSG00000197943 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3), Autosomal dominant; Familial cold autoinflammatory syndrome 3, 614468 (3), Autosomal dominant +ENSG00000197969 Choreoacanthocytosis, 200150 (3), Autosomal recessive +ENSG00000197993 [Blood group, Kell], 110900 (3) +ENSG00000198001 IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3) +ENSG00000198003 Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive +ENSG00000198026 ?Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive +ENSG00000198087 Glomerulosclerosis, focal segmental, 3, 607832 (3) +ENSG00000198130 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive +ENSG00000198171 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive +ENSG00000198198 Epileptic encephalopathy, early infantile, 18, 615476 (3), Autosomal recessive +ENSG00000198218 Ververi-Brady syndrome, 617982 (3), Autosomal dominant +ENSG00000198223 Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) +ENSG00000198246 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive +ENSG00000198286 B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive; Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant +ENSG00000198331 Hydrolethalus syndrome, 236680 (3), Autosomal recessive +ENSG00000198336 ?Atrial fibrillation, familial, 18, 617280 (3), Autosomal dominant +ENSG00000198363 Traboulsi syndrome, 601552 (3), Autosomal recessive +ENSG00000198380 Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive +ENSG00000198400 Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive; Medullary thyroid carcinoma, familial, 155240 (3), Autosomal dominant +ENSG00000198467 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3), Autosomal dominant; Arthrogryposis, distal, type 2B, 601680 (3), Autosomal dominant; CAP myopathy 2, 609285 (3), Autosomal dominant; Nemaline myopathy 4, autosomal dominant, 609285 (3), Autosomal dominant +ENSG00000198513 Neuropathy, hereditary sensory, type ID, 613708 (3), Autosomal dominant; Spastic paraplegia 3A, autosomal dominant, 182600 (3), Autosomal dominant +ENSG00000198515 Retinitis pigmentosa 49, 613756 (3) +ENSG00000198523 Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3), Autosomal dominant +ENSG00000198561 Blepharocheilodontic syndrome 2, 617681 (3), Autosomal dominant +ENSG00000198569 Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive +ENSG00000198570 Leber congenital amaurosis 12, 610612 (3), Autosomal recessive +ENSG00000198589 Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive +ENSG00000198610 {46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive +ENSG00000198626 Arrhythmogenic right ventricular dysplasia 2, 600996 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant +ENSG00000198650 Tyrosinemia, type II, 276600 (3), Autosomal recessive +ENSG00000198668 Long QT syndrome 14, 616247 (3), Autosomal dominant; Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3), Autosomal dominant +ENSG00000198670 {Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3) +ENSG00000198677 Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive +ENSG00000198682 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive +ENSG00000198689 Mental retardation, X-linked syndromic, Christianson type, 300243 (3), X-linked dominant +ENSG00000198690 Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive +ENSG00000198691 Cone-rod dystrophy 3, 604116 (3); Fundus flavimaculatus, 248200 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Retinitis pigmentosa 19, 601718 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive +ENSG00000198707 ?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Joubert syndrome 5, 610188 (3), Autosomal recessive; Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3), Autosomal recessive; Senior-Loken syndrome 6, 610189 (3), Autosomal recessive +ENSG00000198732 Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive +ENSG00000198734 {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; Factor V deficiency, 227400 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant +ENSG00000198793 Focal cortical dysplasia, type II, somatic, 607341 (3); Smith-Kingsmore syndrome, 616638 (3), Autosomal dominant +ENSG00000198799 Urofacial syndrome 2, 615112 (3), Autosomal recessive +ENSG00000198805 Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive +ENSG00000198807 Tooth agenesis, selective, 3, 604625 (3), Autosomal dominant +ENSG00000198814 Glycerol kinase deficiency, 307030 (3), X-linked recessive +ENSG00000198821 ?Immunodeficiency 25, 610163 (3), Autosomal recessive +ENSG00000198824 Mental retardation, autosomal dominant 40, 616579 (3), Autosomal dominant +ENSG00000198835 Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive; Lymphedema, hereditary, IC, 613480 (3), Autosomal dominant; Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive +ENSG00000198836 Behr syndrome, 210000 (3), Autosomal recessive; {Glaucoma, normal tension, susceptibility to}, 606657 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant +ENSG00000198848 Drug metabolism, altered, CES1-related, 618057 (3) +ENSG00000198851 Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive +ENSG00000198853 Mental retardation, autosomal recessive 61, 617773 (3), Autosomal recessive +ENSG00000198860 Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive +ENSG00000198900 DNA topoisomerase I, camptothecin-resistant (3) +ENSG00000198910 CRASH syndrome, 303350 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; MASA syndrome, 303350 (3), X-linked recessive +ENSG00000198920 ?Orofaciodigital syndrome XV, 617127 (3), Autosomal recessive +ENSG00000198931 Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive +ENSG00000198947 Becker muscular dystrophy, 300376 (3), X-linked recessive; Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Duchenne muscular dystrophy, 310200 (3), X-linked recessive +ENSG00000198951 Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type I, 609241 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive +ENSG00000198954 Goldberg-Shprintzen megacolon syndrome, 609460 (3), Autosomal recessive +ENSG00000199158 Deafness, autosomal dominant 50, 613074 (3), Autosomal dominant +ENSG00000200463 Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive +ENSG00000203485 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3), Autosomal dominant; Glomerulosclerosis, focal segmental, 5, 613237 (3) +ENSG00000203618 Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive; Giant platelet disorder, isolated, 231200 (3), Autosomal recessive +ENSG00000203667 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000203710 [Blood group, Knops system], 607486 (3); CR1 deficiency (1); {Malaria, severe, resistance to}, 611162 (3); {?SLE susceptibility} (1) +ENSG00000203747 Immunodeficiency 20, 615707 (3), Autosomal recessive +ENSG00000203782 Vohwinkel syndrome with ichthyosis, 604117 (3), Autosomal dominant +ENSG00000203859 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive +ENSG00000203867 Cardiomyopathy, dilated, 1DD, 613172 (3), Autosomal dominant +ENSG00000203877 ?Spondylocostal dysostosis 6, 616566 (3), Autosomal recessive +ENSG00000203879 Mental retardation, X-linked 41, 300849 (3), X-linked dominant +ENSG00000203883 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant +ENSG00000203908 Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive +ENSG00000204020 Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive +ENSG00000204103 Duane retraction syndrome 3, 617041 (3), Autosomal dominant; Multicentric carpotarsal osteolysis syndrome, 166300 (3), Autosomal dominant +ENSG00000204104 Senior-Loken syndrome 9, 616629 (3), Autosomal recessive +ENSG00000204120 {Parkinson disease 11}, 607688 (3) +ENSG00000204217 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant +ENSG00000204248 Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive +ENSG00000204262 Ehlers-Danlos syndrome, classic type, 2, 130010 (3), Autosomal dominant +ENSG00000204264 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive +ENSG00000204267 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive +ENSG00000204290 {Sarcoidosis, susceptibility to, 2}, 612387 (3), Autosomal dominant +ENSG00000204311 Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive +ENSG00000204351 Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive +ENSG00000204370 Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive; Paraganglioma and gastric stromal sarcoma, 606864 (3); Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant +ENSG00000204385 ?Deafness, autosomal dominant 72, 617606 (3), Autosomal dominant +ENSG00000204386 Sialidosis, type I, 256550 (3), Autosomal recessive; Sialidosis, type II, 256550 (3), Autosomal recessive +ENSG00000204394 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive +ENSG00000204403 {Sepsis, susceptibility to} (3) +ENSG00000204406 Mental retardation, autosomal dominant 1, 156200 (3), Autosomal dominant +ENSG00000204410 ?Premature ovarian failure 13, 617442 (3), Autosomal recessive +ENSG00000204420 ?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3), Autosomal recessive +ENSG00000204475 {Malaria, mild, susceptibility to}, 609148 (3) +ENSG00000204498 {Rheumatoid arthritis, susceptibility to}, 180300 (3) +ENSG00000204525 {HIV-1 viremia, susceptibility to}, 609423 (3); {Psoriasis susceptibility 1}, 177900 (3), Multifactorial +ENSG00000204539 Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive +ENSG00000204644 Diabetes mellitus, transient neonatal, 1, 601410 (3) +ENSG00000204655 ?Narcolepsy 7, 614250 (3), Autosomal dominant +ENSG00000204701 [C3HEX, ability to smell], 615082 (3), Autosomal dominant +ENSG00000204815 Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive +ENSG00000204842 {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Isolated cases, Multifactorial; Spinocerebellar ataxia 2, 183090 (3), Autosomal dominant +ENSG00000204843 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Neuropathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant +ENSG00000204852 Joubert syndrome 13, 614173 (3), Autosomal recessive +ENSG00000204897 Woolly hair, autosomal recessive 3, 616760 (3), Autosomal recessive +ENSG00000204922 ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3), Autosomal recessive +ENSG00000204928 ?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive +ENSG00000204983 Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Trypsinogen deficiency, 614044 (1), Autosomal recessive +ENSG00000205084 Joubert syndrome 20, 614970 (3), Autosomal recessive; Meckel syndrome 11, 615397 (3), Autosomal recessive +ENSG00000205090 Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant +ENSG00000205138 Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive +ENSG00000205155 Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3), Autosomal dominant +ENSG00000205213 {Bone mineral density, low, susceptibility to}, 615311 (3) +ENSG00000205336 Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive; Polymicrogyria, bilateral perisylvian, 615752 (3) +ENSG00000205403 Complement factor I deficiency, 610984 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant +ENSG00000205413 MIRAGE syndrome, 617053 (3), Autosomal dominant; Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive +ENSG00000205420 Pachyonychia congenita 3, 615726 (3) +ENSG00000205426 Monilethrix, 158000 (3), Autosomal dominant +ENSG00000205571 {Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive +ENSG00000205678 Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3), Autosomal recessive +ENSG00000205808 Phospholipid phosphatase 6, 611666 (3) +ENSG00000205899 ?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive +ENSG00000205981 3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive +ENSG00000206013 Osteogenesis imperfecta, type V, 610967 (3), Autosomal dominant +ENSG00000206172 Erythrocytosis, 7, 617981 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant; Hemoglobin H disease, nondeletional, 613978 (3); Methemoglobinemia, alpha type, 617973 (3); Thalassemias, alpha-, 604131 (3) +ENSG00000206503 {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) +ENSG00000206530 ?Spermatogenic failure 20, 617593 (3), Autosomal recessive +ENSG00000206561 Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive +ENSG00000207695 EDICT syndrome, 614303 (3), Autosomal dominant +ENSG00000207935 ?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3), Autosomal dominant +ENSG00000213024 Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive +ENSG00000213088 [Blood group, Duffy system], 110700 (3), Autosomal recessive, Autosomal dominant; {Malaria, vivax, protection against}, 611162 (3); [White blood cell count QTL], 611862 (3), Autosomal recessive +ENSG00000213123 Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3), Autosomal recessive +ENSG00000213139 Cataract 20, multiple types, 116100 (3), Autosomal dominant +ENSG00000213281 Colorectal cancer, somatic, 114500 (3); Epidermal nevus, somatic, 162900 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Neurocutaneous melanosis, somatic, 249400 (3); Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Thyroid carcinoma, follicular, somatic, 188470 (3) +ENSG00000213341 Cocoon syndrome, 613630 (3) +ENSG00000213380 Congenital disorder of glycosylation, type IIh, 611182 (3) +ENSG00000213398 Fish-eye disease, 136120 (3), Autosomal recessive; Norum disease, 245900 (3), Autosomal recessive +ENSG00000213614 GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; [Hex A pseudodeficiency], 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive +ENSG00000213619 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3), Autosomal recessive, Mitochondrial; Mitochondrial complex I deficiency, 252010 (3), Autosomal recessive, X-linked dominant, Mitochondrial +ENSG00000213638 Mental retardation, autosomal recessive 36, 615286 (3), Autosomal recessive +ENSG00000213639 Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3), Autosomal dominant +ENSG00000213658 Immunodeficiency 52, 617514 (3), Autosomal recessive +ENSG00000213689 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3), Autosomal dominant +ENSG00000213741 Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant +ENSG00000213853 Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive +ENSG00000213892 Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant +ENSG00000213918 {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant +ENSG00000213930 Galactosemia, 230400 (3), Autosomal recessive +ENSG00000213934 Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant +ENSG00000214102 Oocyte maturation defect 5, 617996 (3), Autosomal recessive +ENSG00000214113 ?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive +ENSG00000214140 Retinitis pigmentosa 36, 610599 (3) +ENSG00000214160 Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive +ENSG00000214274 Amyotrophic lateral sclerosis 9, 611895 (3) +ENSG00000214413 ?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive +ENSG00000214960 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3), Autosomal recessive +ENSG00000215193 Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive; Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive +ENSG00000215203 Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive +ENSG00000215301 Mental retardation, X-linked 102, 300958 (3), X-linked recessive, X-linked dominant +ENSG00000215417 Feingold syndrome 2, 614326 (3), Autosomal dominant +ENSG00000215612 Oculoauricular syndrome, 612109 (3), Autosomal recessive +ENSG00000215644 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant +ENSG00000217930 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive +ENSG00000218336 Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive +ENSG00000221829 Fanconi anemia, complementation group G, 614082 (3) +ENSG00000221838 Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive +ENSG00000223609 Thalassemia due to Hb Lepore (3); Thalassemia, delta- (3) +ENSG00000223802 Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant; Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive,?Epilepsy, progressive myoclonic, 8, 616230 (3), Autosomal recessive +ENSG00000223865 {Beryllium disease, chronic, susceptibility to} (3) +ENSG00000223953 Retinal degeneration, late-onset, autosomal dominant, 605670 (3), Autosomal dominant +ENSG00000224389 C4B deficiency, 614379 (3) +ENSG00000225190 Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant; ?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive +ENSG00000225614 Brittle cornea syndrome 1, 229200 (3), Autosomal recessive +ENSG00000225783 {Myocardial infarction, susceptibility to}, 608446 (3) +ENSG00000225830 Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive; {Lung cancer, susceptibility to}, 211980 (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); Premature ovarian failure 11, 616946 (3), Autosomal dominant; UV-sensitive syndrome 1, 600630 (3), Autosomal recessive +ENSG00000225950 Glaucoma 1, open angle, 1O, 613100 (3) +ENSG00000226979 {Leprosy, susceptibility to, 4}, 610988 (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3) +ENSG00000227268 Cowden syndrome 4, 615107 (3) +ENSG00000228716 Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive +ENSG00000229474 Oocyte maturation defect 4, 617743 (3), Autosomal recessive +ENSG00000229807 X-inactivation, familial skewed, 300087 (3) +ENSG00000229833 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000231852 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive +ENSG00000231925 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive +ENSG00000232810 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Dementia, vascular, susceptibility to} (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Migraine without aura, susceptibility to}, 157300 (3), Autosomal dominant; {Septic shock, susceptibility to} (3) +ENSG00000233608 Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant; Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive +ENSG00000233927 Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3), Autosomal dominant +ENSG00000234438 Nemaline myopathy 6, autosomal dominant, 609273 (3), Autosomal dominant +ENSG00000234745 {Abacavir hypersensitivity, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Spondyloarthropathy, susceptibility to, 1}, 106300 (3), Multifactorial; {Stevens-Johnson syndrome, susceptibility to}, 608579 (3); {Synovitis, chronic, susceptibility to} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) +ENSG00000234906 Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive +ENSG00000235169 [Blood group, Vel system], 615264 (3), Autosomal recessive +ENSG00000235590 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant +ENSG00000235718 Microphthalmia, isolated 5, 611040 (3), Autosomal recessive; Nanophthalmos 2, 609549 (3) +ENSG00000236320 Bleeding disorder, platelet-type, 20, 616913 (3), Autosomal dominant +ENSG00000237412 Microphthalmia, isolated 6, 613517 (3), Autosomal recessive +ENSG00000237693 {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3); {Mycobacterium tuberculosis, protection against}, 607948 (3) +ENSG00000239474 Nemaline myopathy 9, 615731 (3), Autosomal recessive +ENSG00000239672 Neuroblastoma, 256700 (3), Autosomal dominant, Isolated cases +ENSG00000239900 Adenylosuccinase deficiency, 103050 (3), Autosomal recessive +ENSG00000240065 ?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3), Autosomal recessive +ENSG00000240505 Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant; Immunoglobulin A deficiency 2, 609529 (3) +ENSG00000240583 [Aquaporin-1 deficiency], 110450 (3); [Blood group, Colton], 110450 (3) +ENSG00000240972 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) +ENSG00000241186 Forebrain defects (3) +ENSG00000241476 ?Sarcoma, synovial, 300813 (3) +ENSG00000241635 [Bilirubin, serum level of, QTL1], 601816 (3); Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Gilbert syndrome], 143500 (3), Autosomal recessive; Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive +ENSG00000241935 Hyperoxaluria, primary, type III, 613616 (3) +ENSG00000241973 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive +ENSG00000242110 Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive +ENSG00000242802 Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive +ENSG00000242866 Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive +ENSG00000243335 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive +ENSG00000243646 {Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive +ENSG00000243649 ?Complement factor B deficiency, 615561 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3) +ENSG00000243989 Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive +ENSG00000244038 ?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive +ENSG00000244045 Congenital disorder of glycosylation, type IIp, 616829 (3), Autosomal recessive +ENSG00000244414 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant +ENSG00000244462 {Schizophrenia 19, susceptibility to}, 617629 (3), Autosomal dominant +ENSG00000244486 Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive +ENSG00000244731 [Blood group, Rodgers], 614374 (3); C4a deficiency, 614380 (3), Autosomal recessive +ENSG00000244734 Delta-beta thalassemia, 141749 (3), Autosomal dominant; Erythrocytosis 6, 617980 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Methmoglobinemia, beta type, 617971 (3); Sickle cell anemia, 603903 (3), Autosomal recessive; Thalassemia, beta, 613985 (3); Thalassemia-beta, dominant inclusion-body, 603902 (3) +ENSG00000244752 Cataract 3, multiple types, 601547 (3), Autosomal dominant +ENSG00000245848 ?Leukemia, acute myeloid, 601626 (3), Autosomal dominant; Leukemia, acute myeloid, somatic, 601626 (3) +ENSG00000247626 ?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive; Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive +ENSG00000248098 Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive +ENSG00000248099 Cryptorchidism, 219050 (3), Autosomal dominant +ENSG00000248144 {Alcohol dependence, protection against}, 103780 (3), Multifactorial; {Parkinson disease, susceptibility to}, 168600 (3), Isolated cases, Multifactorial +ENSG00000248746 [Alpha-actinin-3 deficiency], 617749 (3); [Sprinting performance], 617749 (3) +ENSG00000250361 [Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3) +ENSG00000250479 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3), Autosomal dominant; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3), Autosomal dominant; Spinal muscular atrophy, Jokela type, 615048 (3), Autosomal dominant +ENSG00000251322 Phelan-McDermid syndrome, 606232 (3), Autosomal dominant; {Schizophrenia 15}, 613950 (3) +ENSG00000253710 Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive +ENSG00000253729 Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive +ENSG00000254585 Schaaf-Yang syndrome, 615547 (3), Autosomal dominant +ENSG00000254636 {Macular degeneration, age-related, 8}, 613778 (3) +ENSG00000254647 Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 606176 (3), Autosomal recessive, Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant +ENSG00000255072 Hyperphosphatasia with mental retardation syndrome 6, 616809 (3), Autosomal recessive +ENSG00000255974 Coumarin resistance, 122700 (3), Autosomal dominant; {Lung cancer, resistance to}, 211980 (3), Autosomal recessive; {Nicotine addiction, protection from}, 188890 (3) +ENSG00000256053 Mitochondrial complex IV deficiency, 220110 (3), Autosomal recessive, Mitochondrial +ENSG00000256061 Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive; {Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant +ENSG00000256269 Porphyria, acute intermittent, 176000 (3), Autosomal dominant; Porphyria, acute intermittent, nonerythroid variant, 176000 (3), Autosomal dominant +ENSG00000256525 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant +ENSG00000257017 [Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3) +ENSG00000257138 [Phenylthiocarbamide tasting], 171200 (3), Autosomal dominant +ENSG00000258366 Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant +ENSG00000258839 {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive; {UV-induced skin damage}, 266300 (3), Autosomal recessive +ENSG00000258947 Cortical dysplasia, complex, with other brain malformations 1, 614039 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 3A, 600638 (3), Autosomal dominant +ENSG00000259207 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3) +ENSG00000259384 Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant; Kowarski syndrome, 262650 (3), Autosomal recessive +ENSG00000260230 Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive +ENSG00000260458 {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3), Isolated cases +ENSG00000261456 Oocyte maturation defect 2, 616780 (3), Autosomal recessive, Autosomal dominant +ENSG00000261609 Giant axonal neuropathy-1, 256850 (3), Autosomal recessive +ENSG00000262919 STAR syndrome, 300707 (3), X-linked dominant +ENSG00000263639 {Prostate cancer, hereditary, 13}, 611928 (3) +ENSG00000263761 Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3), Autosomal dominant +ENSG00000264229 Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive; Roifman syndrome, 616651 (3), Autosomal recessive +ENSG00000265107 Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant +ENSG00000265203 ?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive +ENSG00000265241 Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive +ENSG00000266173 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive +ENSG00000267534 Deafness, autosomal recessive 68, 610419 (3), Autosomal recessive +ENSG00000268104 {Obesity, susceptibility to, BMIQ11}, 300306 (3) +ENSG00000268221 Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, deutan, 303800 (3), X-linked +ENSG00000269058 ?Cardiomyopathy, hypertrophic, 19, 613875 (3), Autosomal dominant +ENSG00000269335 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency 33, 300636 (3), X-linked recessive; Immunodeficiency, isolated, 300584 (3); Incontinentia pigmenti, 308300 (3), X-linked dominant; Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3) +ENSG00000269821 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant +ENSG00000269900 Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive +ENSG00000271503 {HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid progression of} (3) +ENSG00000272047 Trichothiodystrophy 3, photosensitive, 616395 (3) +ENSG00000272333 Dystonia 28, childhood-onset, 617284 (3), Autosomal dominant +ENSG00000273079 Epileptic encephalopathy, early infantile, 27, 616139 (3), Autosomal dominant; Mental retardation, autosomal dominant 6, 613970 (3), Autosomal dominant +ENSG00000273540 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3), Autosomal dominant +ENSG00000273611 PEHO syndrome, 260565 (3), Autosomal recessive +ENSG00000273820 Mental retardation, X-linked 105, 300984 (3), X-linked recessive +ENSG00000274286 Epilepsy, myoclonic, familial adult, 2, 607876 (3), Autosomal dominant +ENSG00000275410 Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; {Renal cell carcinoma}, 144700 (3); Renal cysts and diabetes syndrome, 137920 (3), Autosomal dominant +ENSG00000275896 {Pancreatitis, chronic, protection against}, 167800 (3), Autosomal dominant +ENSG00000276747 Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive +ENSG00000277161 Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive +ENSG00000277399 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive +ENSG00000277494 Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive +ENSG00000277586 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant +ENSG00000277893 Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive +ENSG00000277925 {Aplastic anemia}, 614743 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 1, 127550 (3), Autosomal dominant; {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3), Autosomal dominant +ENSG00000278570 Enhanced S-cone syndrome, 268100 (3), Autosomal recessive; Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant +ENSG00000284547 [Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant +ENSG00000284770 Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive +ENSG00000284862 Ciliary dyskinesia, primary, 14, 613807 (3) diff --git a/omim_inheritance.txt b/omim_inheritance.txt new file mode 100644 index 0000000..e69de29