Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
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
Enfermedad/Phenotype | Phenotype MIM number | Simbolo del Gen | Nombre del Gen |
Fabry disease | 301500 | GLA | galactosidase, alpha |
Fabry disease, cardiac variant | 301500 | GLA | galactosidase, alpha |
Facioscapulohumeral Muscular Dystrophy | 158900 | FRG1 | FSHD region gene 1 |
Fanconi anemia | |||
Fanconi anemia, complementation group A | 227650 | FANCA | Fanconi anemia, complementation group A |
Fanconi anemia, complementation group C | 227645 | FANCC | Fanconi anemia, complementation group C |
Fanconi anemia, complementation group F | 603467 | FANCF | Fanconi anemia, complementation group F |
Fanconi anemia, complementation group G | 614082 | FANCG | Fanconi anemia, complementation group G |
Febrile seizures, familial, 3B | 613863 | SCN9A | sodium channel, voltage-gated, type IX, alpha subunit |
Fetal akinesia deformation sequence | 208150 | DOK7 | docking protein 7 |
Fetal akinesia deformation sequence | 208150 | RAPSN | receptor-associated protein of the synapse |
Fibrochondrogenesis | 228520 | COL11A1 | collagen, type XI, alpha 1 |
Fibrochondrogenesis 2 | 614524 | COL11A2 | collagen, type XI, alpha 2 |
Fibromatosis, gingival | 135300 | SOS1 | son of sevenless homolog 1 (Drosophila) |
Focal cortical dysplasia, Taylor balloon cell type | 607341 | TSC1 | tuberous sclerosis 1 |
Foveal hyperplasia | 136520 | PAX6 | paired box 6 |
Foveomacular dystrophy, adult-onset, with choroidal neovascularization | 608161 | PRPH2 | peripherin 2 (retinal degeneration, slow) |
Frasier syndrome | 136680 | WT1 | Wilms tumor 1 |
Friedreich ataxia | 229300 | FXN | frataxin |
Friedreich ataxia with retained reflexes | 229300 | FXN | frataxin |
Fundus flavimaculatus | 248200 | ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 |