Index of genetic diseases offered by AC Gen Reading Life
|
Search your disease / gen |
|
A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
| 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 |
