omimdefinitions

| * 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1| TAL1
| Chromosome 1p32-p31 deletion syndrome (4)
| Cardiomyopathy, dilated, 1CC, 613122 (3)
| Cardiomyopathy, familial hypertrophic, 20, 613876 (3)
| Schneckenbecken dysplasia, 269250 (3)
| Epileptic encephalopathy, early infantile, 23, 615859 (3)
| {Inflammatory bowel disease 17, protection against}, 612261 (3)
| {Psoriasis, protection against}, 605606 (3)
| Omphalocele due to duplication of 1p31.3 (4)
| Porokeratosis 5, disseminated superficial actinic (2)
| {Biliary cirrhosis, primary, 3} (2)
| Cystathioninuria, 219500 (3)
| * 607657 CYSTATHIONINE GAMMA-LYASE| CTH
| Spastic paraplegia 29, autosomal dominant (2)
| Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
| Acute insulin response (2)
| {Autoimmune disease, susceptibility to, 1}, 607836 (3)
| Hypobetalipoproteinemia, familial, 2, 605019 (3)
| {Asthma-related traits, susceptibility to, 4} (2)
| Bartter syndrome, type 4a, 602522 (3)
| * 606412 BSND GENE
| Maple syrup urine disease, type II, 248600 (3)
| Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
| Orofacial cleft 14 (2)
| Peripheral arterial occlusive disease 1 (2)
| Congenital disorder of glycosylation, type It, 614921 (3)
| Leber congenital amaurosis 2, 204100 (3)
| Retinitis pigmentosa 20, 613794 (3)
| {Atrioventricular septal defect, susceptibility to, 1} (2)
| Congenital disorder of glycosylation, type Ic, 603147 (3)
| Premature ovarian failure 9, 615724 (3)
| Myopia 21, autosomal dominant, 614167 (3)
| Stargardt disease 1, 248200 (3)
| Retinitis pigmentosa 19, 601718 (3)
| Cone-rod dystrophy 3, 604116 (3)
| Macular degeneration, age-related, 2, 153800 (3)
| * 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4| ABCA4
| Retinal dystrophy, early-onset severe, 248200 (3)
| * 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT| GCLM
| Diamond-Blackfan anemia 6, 612561 (3)
| Deafness, autosomal recessive 32 (2)
| Lymphoma, MALT, somatic, 137245 (3)
| {Lymphoma, follicular, somatic}, 613024 (3)
| * 603517 B-CELL CLL/LYMPHOMA 10| BCL10
| {Sezary syndrome, somatic}, (3)
| {Mesothelioma, somatic}, 156240 (3)
| {Melanoma, cutaneous malignant, 4} (2)
| Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
| * 612779 DIHYDROPYRIMIDINE DEHYDROGENASE| DPYD
| Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
| Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
| {Kala-azar, susceptibility to, 2} (2)
| [Urate oxidase deficiency] (1)
| Glomuvenous malformations, 138000 (3)
| Retinitis pigmentosa 32 (2)
| Mental retardation, autosomal recessive, 4 (2)
| Hypotrichosis 5 (2)
| Glycogen storage disease IIIa, 232400 (3)
| * 610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE| AGL
| Stickler syndrome, type II, 604841 (3)
| Marshall syndrome, 154780 (3)
| * 120280 COLLAGEN, TYPE XI, ALPHA-1| COL11A1
| Fibrochondrogenesis, 228520 (3)
| ?Arthrogryposis, mental retardation, and seizures, 615553 (3)
| {Stature QTL 7} (2)
| Waardenburg syndrome, type 2B (2)
| Frontonasal dysplasia 1, 136760 (3)
| Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
| ?Spastic paraplegia 63, 615686 (3)
| Pontocerebellar hypoplasia, type 9, 615809 (3)
| [Low density lipoprotein cholesterol level QTL6], 613589 (3)
| Spinocerebellar ataxia 19, 607346 (3)
| Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
| Spastic paraplegia 47, autosomal recessive, 614066 (3)
| Autoimmune lymphoproliferative syndrome type IV, 614470 (3)
| Noonan syndrome 6, 613224 (3)
| Epidermal nevus, somatic, 162900 (3)
| Thyroid carcinoma, follicular, somatic, 188470 (3)
| * 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG| NRAS
| Melanocytic nevus syndrome, congenital, somatic, 137550 (3)
| Neurocutaneous melanosis, somatic, 249400 (3)
| Erythrocyte lactate transporter defect, 245340 (3)
| Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
| Chudley-McCullough syndrome, 604213 (3)
| 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
| Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
| Auriculocondylar syndrome 1, 602483 (3)
| Achromatopsia-4, 613856 (3)
| Urofacial syndrome 2, 615112 (3)
| {Diabetes, type 1, susceptibility to}, 222100 (3)
| * 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22| PTPN22
| {Systemic lupus erythematosus susceptibility to}, 152700 (3)
| * 606077 RNA-BINDING MOTIF PROTEIN 15| RBM15
| Cousin syndrome, 260660 (3)
| Thyroid carcinoma, papillary, 188550 (3)
| Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
| Caudal regression syndrome, 600145 (3)
| Neural tube defects, 182940 (3)
| Vesicoureteral reflux (2)
| HMG-CoA synthase-2 deficiency, 605911 (3)

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