omimdefinitions

| * 601962 TAP-BINDING PROTEIN| TAPBP
| * 191160 TUMOR NECROSIS FACTOR| TNF
| {Septic shock, susceptibility to} (3)
| {Asthma, susceptibility to}, 600807 (3)
| {Dementia, vascular, susceptibility to} (3)
| {Migraine without aura, susceptibility to}, 157300 (3)
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency, 606408 (3)
| * 600985 TENASCIN XB| TNXB
| Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
| Retinitis pigmentosa 14, 600132 (3)
| Leber congenital amaurosis 15, 613843 (3)
| {Vitiligo-associated multiple autoimmune disease susceptiblity 6} (2)
| Wegener granulomatosis (2)
| {Macroglobulinemia, Waldenstrom, susceptibility to, 1} (2)
| {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
| ?Laryngeal adductor paralysis (2)
| Mean platelet volume QTL4 (2)
| Alzheimer disease 17 (2)
| Nasu-Hakola disease, 221770 (3)
| Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
| * 601690 PHOSPHOLIPASE A2, GROUP VII| PLA2G7
| {Atopy, susceptibility to}, 147050 (3)
| Combined oxidative phosphorylation deficiency 8, 614096 (3)
| 3-M syndrome 1, 273750 (3)
| Cone dystrophy-3, 602093 (3)
| * 600364 GUANYLATE CYCLASE ACTIVATOR 1A| GUCA1A
| Retinitis pigmentosa 48, 613827 (3)
| Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
| Peroxisome biogenesis disorder 4B, 614863 (3)
| Photoparoxysmal response 1 (2)
| Ciliary dyskinesia, primary, 12, 612650 (3)
| {Migraine with or without aura, susceptibility to, 3} (2)
| Polycystic kidney and hepatic disease, 263200 (3)
| Xeroderma pigmentosum, variant type, 278750 (3)
| Anemia, hemolytic, Rh-null, regulator type, 268150 (3)
| * 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN| RHAG
| Retinitis pigmentosa 7, 608133 (3)
| * 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF| PRPH2
| Macular dystrophy, patterned, 169150 (3)
| Macular dystrophy, vitelliform, 608161 (3)
| Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3)
| Macular dystrophy (3)
| Retinitis pigmentosa, digenic, 608133 (3)
| Choriodal dystrophy, central areolar 2, 613105 (3)
| Epilepsy, juvenile myoclonic 3 (2)
| * 600701 HIGH MOBILITY GROUP AT-HOOK 1| HMGA1
| Methylmalonic aciduria, mut(0) type, 251000 (3)
| {Restless legs syndrome 6} (2)
| Cleidocranial dysplasia, 119600 (3)
| * 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2| RUNX2
| Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)
| Trichohepatoenteric syndrome 2, 614602 (3)
| [Uric acid concentration, serum, QTL4] (2)
| Endocrine-cerebroosteodysplasia, 612651 (3)
| Spinocerebellar ataxia 34 (2)
| Mental retardation, autosomal recessive 24 (2)
| Glomerulosclerosis, focal segmental, 3, 607832 (3)
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)
| * 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT| GCLC
| Glycine N-methyltransferase deficiency, 606664 (3)
| Candidiasis, familial, 6, autosomal dominant, 613956 (3)
| Nystagmus 2, congenital, autosomal dominant (2)
| Char syndrome, 169100 (3)
| {Microvascular complications of diabetes 1}, 603933 (3)
| Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
| Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 (3)
| {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3)
| {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
| {Cataract 28, age-related cortical, susceptibility to} (2)
| {Autoimmune thyroid disease, susceptibility to, 1} (2)
| Carpenter syndrome, 201000 (3)
| Pelviureteric junction obstruction (2)
| Diamond-Blackfan anemia 9, 613308 (3)
| Vestibulopathy, familial (2)
| Chromosome 6q11-q14 deletion syndrome (4)
| {Attention deficit-hyperactivity disorder}, 143465 (2)
| Retinitis pigmentosa 25, 602772 (3)
| Immunodeficiency 23, 615816 (3)
| Cone-rod dystrophy 7, 603649 (3)
| Mental retardation, autosomal recessive 30 (2)
| Cardiomyopathy, dilated, 1K (2)
| Epiphyseal dysplasia, multiple, 6, 614135 (3)
| Stickler syndrome, type IV, 614134 (3)
| Hydatidiform mole, recurrent, 2, 614293 (3)
| Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
| Combined oxidative phosphorylation deficiency 10, 614702 (3)
| Deafness, autosomal dominant 22, 606346 (3)
| Deafness, autosomal recessive 37, 607821 (3)
| * 600970 MYOSIN VI| MYO6
| Otosclerosis 7 (2)
| {Schizophrenia}, 181500 (2)
| * 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE| BCKDHB
| Stargardt disease 3, 600110 (3)
| * 605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4| ELOVL4
| Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)
| Salla disease, 604369 (3)
| Sialic acid storage disorder, infantile, 269920 (3)
| Atrial fibrillation, familial, 2 (2)
| Chorioretinal atrophy, progressive bifocal (2)

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