omimdefinitions

| * 606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE| GP1BA
| {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
| Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
| von Willebrand disease, platelet-type, 177820 (3)
| Alpha-2-plasmin inhibitor deficiency, 262850 (3)
| * 113721 BREAST CANCER-RELATED REGULATOR OF TP53
| Miller-Dieker lissencephaly syndrome (4)
| Chromosome 17p13.3 duplication syndrome (4)
| * 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1| P2RX1
| Lissencephaly 1, 607432 (3)
| * 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT|
| Amyotrophic lateral sclerosis 18, 614808 (3)
| Retinitis pigmentosa 13, 600059 (3)
| Osteogenesis imperfecta, type VI, 613982 (3)
| Pontocerebellar hypoplasia, type 2E, 615851 (3)
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
| Split-hand/foot malformation with long bone deficiency 3 (2)
| Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
| Spastic ataxia 2, autosomal recessive, 611302 (3)
| Riboflavin deficiency, 615026 (3)
| ?Spermatogenic failure 14, 615842 (3)
| Mental retardation, autosomal recessive 33 (2)
| Leber congenital amaurosis 4, 604393 (3)
| * 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1| AIPL1
| Cone-rod dystrophy, 604393 (3)
| Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
| Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
| Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
| Chromosome 17p13.1 deletion syndrome (4)
| Leber congenital amaurosis 1, 204000 (3)
| Cone-rod dystrophy 6, 601777(3)
| Inclusion body myopathy-3, 605637 (3)
| Arthrogryposis, distal, type 2A, 193700 (3)
| * 160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC| MYH3
| Carney complex variant, 608837 (3)
| Trismus-pseudocamptodactyly syndrome, 158300 (3)
| Ataxia-oculomotor apraxia 3, 615217 (3)
| Cone-rod dystrophy 5, 600977 (3)
| * 191170 TUMOR PROTEIN p53| TP53
| Li-Fraumeni syndrome, 151623 (3)
| Hepatocellular carcinoma, 114550 (3)
| Osteosarcoma, 259500 (3)
| Choroid plexus papilloma, 260500 (3)
| Nasopharyngeal carcinoma, 607107 (3)
| Pancreatic cancer, 260350 (3)
| Adrenal cortical carcinoma, 202300 (3)
| Breast cancer, 114480 (3)
| {Basal cell carcinoma 7}, 614740 (3)
| {Glioma susceptibility 1}, 137800 (3)
| Congenital disorder of glycosylation, type If, 609180 (3)
| VLCAD deficiency, 201475 (3)
| {Asperger syndrome susceptibility 2} (2)
| Cataract 24, anterior polar (2)
| Cystinosis, nephropathic, 219800 (3)
| Cystinosis, ocular nonnephropathic, 219750 (3)
| Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
| * 606272 CYSTINOSIN| CTNS
| Myasthenia, familial infantile, 1 (2)
| {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
| ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
| Nail dysplasia, isolated congenital (2)
| * 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER
| [Sex hormone-binding blobulin circulating level QTL 1] (2)
| Olmsted syndrome, 614594 (3)
| Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
| * 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE| CHRNE
| Myasthenic syndrome, fast-channel congenital, 608930 (3)
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
| * 603644 SCO1, S. CEREVISIAE, HOMOLOG OF| SCO1
| Abdominal obesity-metabolic syndrome (2)
| Bruck syndrome 1 (2)
| ?Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
| * 602125 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10| COX10
| Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
| CHIME syndrome, 280000 (3)
| Cleft palate, isolated, 119540 (2)
| * 100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1| CHRNB1
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)
| Deafness, autosomal recessive 85 (2)
| Ectodermal dysplasia 6, hair/nail type (2)
| Sjogren-Larsson syndrome, 270200 (3)
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)
| Meckel syndrome 9, 614209 (3)
| Birt-Hogg-Dube syndrome, 135150 (3)
| Pneumothorax, primary spontaneous, 173600 (3)
| * 607273 FOLLICULIN| FLCN
| Colorectal cancer, somatic, 114500 (3)
| Scoliosis, idiopathic 2 (2)
| {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)
| Deafness, autosomal recessive 3, 600316 (3)
| Charcot-Marie-Tooth disease, type 1A, 118220 (3)
| * 601097 PERIPHERAL MYELIN PROTEIN 22| PMP22
| Neuropathy, recurrent, with pressure palsies, 162500 (3)
| Charcot-Marie-Tooth disease, type 1E, 118300 (3)
| Roussy-Levy syndrome, 180800 (3)
| Neuropathy, inflammatory demyelinating, 139393 (3)
| Potocki-Lupski syndrome (4)
| Smith-Magenis syndrome, 182290 (3)
| Immunoglobulin A deficiency 2, 609529 (3)
| Immunodeficiency, common variable, 2, 240500 (3)

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