omimdefinitions

| * 107280 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 3| SERPINA3
| Cerebrovascular disease, occlusive (3)
| * 605271 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 10| SERPINA10
| * 186960 T-CELL LEUKEMIA/LYMPHOMA 1A| TCL1A
| * 603769 T-CELL LYMPHOMA/LEUKEMIA 1B| TCL1B
| * 608132 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 8| TTC8
| Retinitis pigmentosa 51, 613464 (3)
| Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
| Machado-Joseph disease, 109150 (3)
| Mental retardation, autosomal recessive 32 (2)
| * 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1| AKT1
| Colorectal cancer, somatic, 114500 (3)
| Ovarian cancer, somatic, 167000 (3)
| {Schizophrenia, susceptibility to}, 181500 (2)
| Proteus syndrome, somatic, 176920 (3)
| Cowden syndrome 6, 615109 (3)
| {Melanoma, cutaneous malignant, 6}, 613972 (3)
| * 600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3| XRCC3
| Spastic paraplegia 49, autosomal recessive, 615031 (3)
| {Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
| * 147110 IMMUNOGLOBULIN Gm2| IGHG2
| Agammaglobulinemia 1, 601495 (3)
| ?Hyperimmunoglobulin G1 syndrome (2)
| Glomerulosclerosis, focal segmental, 5, 613237 (3)
| Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
| Phobia, specific (2)
| Microphthalmia with limb anomalies, 206920 (3)
| {Hypertension, essential, susceptibility to, 2}, 145500 (2)
| Cholestasis-lymphedema syndrome (2)
| Diamond-Blackfan anemia 4, 612527 (3)
| {Autism susceptibility 4} (2)
| {Celiac disease, susceptibility to, 5} (2)
| Glaucoma 1, open angle, I (2)
| Precocious puberty, central, 2, 615346 (3)
| Prader-Willi syndrome, 176270 (3)
| Angelman syndrome, 105830 (3)
| ?Roifman-Chitayat syndrome (2)
| Spastic paraplegia 6, autosomal dominant, 600363 (3)
| Chromosome 15q11.2 deletion syndrome (4)
| Prader-Willi-like syndrome, 615547 (3)
| * 601889 NEUROBEACHIN PSEUDOGENE 1| NBEAP1
| Insomnia (3)
| {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
| {Migraine with aura, susceptibility to, 7} (2)
| Albinism, oculocutaneous, type II, 203200 (3)
| * 611409 OCA2 GENE
| [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
| [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
| {Hypertriglyceridemia, susceptibility to} (2)
| {Prostate cancer, hereditary, 7} (2)
| * 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N| SNRPN
| Microphthalmia with coloboma 2 (2)
| Short-rib thoracic dysplasia 1 with or without polydactyly (2)
| {Schizophrenia, susceptibility to, 13} (2)
| Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
| Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
| * 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2| HERC2
| [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
| Mental retardation, autosomal recessive 38, 615516 (3)
| Ciliary dyskinesia, primary, 4 (2)
| Legius syndrome, 611431 (3)
| Interstitial nephritis, karyomegalic, 614817 (3)
| Chromosome 15q13.3 microdeletion syndrome (4)
| * 606934 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1| NDUFAF1
| Cardiomyopathy, dilated, 1R, 613424 (3)
| Cardiomyopathy, familial hypertrophic, 11, 612098 (3)
| Atrial septal defect 5, 612794 (3)
| * 102540 ACTIN, ALPHA, CARDIAC MUSCLE| ACTC1
| Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
| * 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7| CHRNA7
| Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
| {Epilepsy, idiopathic generalized, susceptibility to, 7} (2)
| Epilepsy, juvenile myoclonic (2)
| Isovaleric acidemia, 243500 (3)
| Dyskeratosis congenita, autosomal recessive 1, 224230 (3)
| Hermansky-pudlak syndrome 9, 614171 (3)
| * 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF,
| Mosaic variegated aneuploidy syndrome 1, 257300 (3)
| [Premature chromatid separation trait], 176430 (3)
| Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
| Thyroid dyshormonogenesis 5, 274900 (3)
| Spherocytosis, hereditary, type 5, 612690 (3)
| * 604114 PHOSPHOLIPASE C, BETA-2| PLCB2
| {Schizophrenia 10} (2)
| Deafness, autosomal recessive 16, 603720 (3)
| Bartter syndrome, type 1, 601678 (3)
| Johanson-Blizzard syndrome, 243800 (3)
| Microcephaly 4, primary, autosomal recessive, 604321 (3)
| Pulmonary venoocclusive disease 2, 234810 (3)
| * 179617 RAD51, S. CEREVISIAE, HOMOLOG OF| RAD51
| Mirror movements 2, 614508 (3)
| Amyotrophic lateral sclerosis 5, juvenile recessive (2)
| Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
| Peeling skin syndrome, acral type, 609796 (3)
| Spinocerebellar ataxia 11, 604432 (3)
| Deafness and male infertility (4)
| Thryoid dyshormonogenesis 6, 607200 (3)
| Fanconi renotubular syndrome 1 (2)
| Cerebral creatine deficiency syndrome 3, 612718 (3)
| * 182500 SORBITOL DEHYDROGENASE| SORD

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