omimdefinitions

| * 193040 VILLIN| VIL
| Microphthalmia, isolated, with coloboma 7, 614497 (3)
| [Blood group, Langereis system], 111600 (3)
| Dyschromatosis universalis hereditaria 3, 615402 (3)
| Acropectorovertebral dysplasia (2)
| {IgA nephropathy, susceptibility to, 2} (2)
| {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
| {Coronary artery disease, susceptibility to} (3)
| ?Combined oxidative phosphorylation deficiency 16, 615395 (3)
| Hyperoxaluria, primary, type 1, 259900 (3)
| Alport syndrome, autosomal recessive, 203780 (3)
| Hematuria, benign familial, 141200 (3)
| Alport syndrome, autosomal dominant, 104200 (3)
| * 120131 COLLAGEN, TYPE IV, ALPHA-4| COL4A4
| Hematuria, familial benign (3)
| Arthrogryposis, distal, type 5D, 615065 (3)
| * 138030 GLUCAGON| GCG
| ?Joubert syndrome 22, 615665 (3)
| Waardenburg syndrome, type 1, 193500 (3)
| Waardenburg syndrome, type 3, 148820 (3)
| Craniofacial-deafness-hand syndrome, 122880 (3)
| * 606597 PAIRED BOX GENE 3| PAX3
| {Spondyloarthropathy, susceptibility to, 3} (2)
| Rajab syndrome (2)
| Pseudohypoaldosteronism, type IIE, 614496 (3)
| Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
| {Specific language impairment 5}, 615432 (3)
| Bethlem myopathy, 158810 (3)
| Ullrich congenital muscular dystrophy, 254090 (3)
| Basal ganglia calcification, idiopathic, 2 (2)
| Snowflake vitreoretinal degeneration, 193230 (3)
| Leber congenital amaurosis 16, 614186 (3)
| Spastic paraplegia 30, autosomal recessive, 610357 (3)
| Neuropathy, hereditary sensory, type IIC, 614213 (3)
| Mental retardation, autosomal dominant 9, 614255 (3)
| Griscelli syndrome, type 3, 609227 (3)
| Crigler-Najjar syndrome, type I, 218800 (3)
| [Gilbert syndrome], 143500 (3)
| Crigler-Najjar syndrome, type II, 606785 (3)
| Hyperbilirubinemia, familial transient neonatal, 237900 (3)
| [Bilirubin, serum level of, QTL1], 601816 (3)
| {Inflammatory bowel disease 10}, 611081 (3)
| Parkinson disease 11, 607688 (3)
| Myopia 12 (2)
| Microphthalmia, isolated 6, 613517 (3)
| Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
| * 604457 NUCLEAR BODY PROTEIN SP110| SP110
| Oguchi disease-1, 258100 (3)
| Retinitis pigmentosa 47, 613758 (3)
| {Stature QTL 21} (2)
| Holoprosencephaly-6 (2)
| Perlman syndrome, 267000 (3)
| Brachydactyly-mental retardation syndrome, 600430 (3)
| {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
| D-2-hydroxyglutaric aciduria, 600721 (3)
| * 603835 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 10| NDUFA10
| {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
| {Multiple sclerosis, disease progression, modifier of}, 126200 (3)
| Advanced sleep phase syndrome, familial, 1, 604348 (3)
| Focal facial dermal dysplasia 3, Setleis type, 227260 (3)
| 3p- syndrome (4)
| * 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1| CX3CR1
| {Coronary artery disease, resistance to}, 607339 (3)
| {Macular degeneration, age-related, 12}, 613784 (3)
| Mental retardation, autosomal recessive 2, 607417 (3)
| Renal cell carcinoma, clear cell, somatic, 144700 (3)
| Spinocerebellar ataxia 15, 606658 (3)
| Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
| {Age-related hearing impairment 2} (2)
| {Prostate cancer, hereditary, 5}, 176807 (2)
| {Inflammatory bowel disease 9} (2)
| {Stature QTL 5} (2)
| Multiple sulfatase deficiency, 272200 (3)
| {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
| * 605353 GHRELIN| GHRL
| von Hippel-Lindau syndrome, 193300 (3)
| * 608537 VHL GENE| VHL
| Pheochromocytoma, 171300 (3)
| Hemangioblastoma, cerebellar, somatic (3)
| Erythrocytosis, familial, 2, 263400 (3)
| Moyamoya disease (2)
| {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
| * 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1| CRELD1
| Fanconi anemia, complementation group D2, 227646 (3)
| {Centronuclear myopathy, autosomal, modifier of}, 160150 (3)
| Mental retardation, autosomal dominant 23, 615761 (3)
| {Melanoma, uveal, susceptibility to, 2} (2)
| Biotinidase deficiency, 253260 (3)
| Muscular dystrophy, limb-girdle, type IC, 607801 (3)
| Rippling muscle disease, 606072 (3)
| Creatine phosphokinase, elevated serum, 123320 (3)
| Myopathy, distal, Tateyama type, 614321 (3)
| Cardiomyopathy, familial hypertrophic, 192600 (3)
| Long QT syndrome 9, 611818 (3)
| ?Lipodystrophy, familial partial, type 5, 615238 (3)
| Endplate acetylcholinesterase deficiency, 603034 (3)
| * 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA| PPARG
| [Obesity, resistance to] (3)
| Insulin resistance, severe, digenic, 604367 (3)
| Lipodystrophy, familial partial, type 3, 604367 (3)

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