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Index of genetic diseases offered by AC Gen Reading Life


Search your disease / gen
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Disease/Phenotype Phenotype MIM number Gene Symbol Gene Name
Occipital horn syndrome 304150 ATP7A  ATPase, Cu++ transporting, alpha polypeptide
Ocular albinism, type I, Nettleship-Falls type 300500 GPR143  G protein-coupled receptor 143
Oculocutaneous albinism, type II, modifier of 203200 MC1R  melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Oculopharyngeal muscular dystrophy 164300 PABPN1  poly(A) binding protein, nuclear 1
Odontohypophosphatasia 146300 ALPL  alkaline phosphatase, liver/bone/kidney
OI type II 166210 COL1A1  collagen, type I, alpha 1
OI type III 259420 COL1A1  collagen, type I, alpha 1
OI type IV 166220 COL1A1  collagen, type I, alpha 1
Omenn syndrome      
Omenn syndrome 603554 RAG1  recombination activating gene 1
Omenn syndrome 603554 RAG2 recombination activating gene 2
Opitz-Kaveggia syndrome 305450 MED12  mediator complex subunit 12
Optic nerve hypoplasia 165550 PAX6  paired box 6
Ornithine transcarbamylase deficiency 311250 OTC  ornithine carbamoyltransferase
Osteoarthritis      
Osteoarthritis with mild chondrodysplasia 604864 COL2A1  collagen, type II, alpha 1
Osteoarthritis-5 612400 GDF5  growth differentiation factor 5
Osteoporosis/osteogenesis imperfecta      
Osteogenesis imperfecta, type I 166200 COL1A1  collagen, type I, alpha 1
Osteogenesis imperfecta, type II 166210 COL1A2  collagen, type I, alpha 2
Osteogenesis imperfecta, type III 259420 COL1A2  collagen, type I, alpha 2
Osteogenesis imperfecta, type IV 166220 COL1A2  collagen, type I, alpha 2
Osteoglophonic dysplasia 166250 FGFR1  fibroblast growth factor receptor 1
Osteoporosis 166710 COL1A1  collagen, type I, alpha 1
Osteoporosis, postmenopausal 166710 COL1A2  collagen, type I, alpha 2
Osteosarcoma 259500 TP53  tumor protein p53
Otofaciocervical syndrome 166780 EYA1 eyes absent homolog 1 (Drosophila)
Otospondylomegaepiphyseal dysplasia 215150 COL11A2  collagen, type XI, alpha 2
Otospondylomegaepiphyseal dysplasia 215150 COL2A1  collagen, type II, alpha 1

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