Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
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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 |
| Jackson-Weiss syndrome | 123150 | FGFR1 | fibroblast growth factor receptor 1 |
| Jervell and Lange-Nielsen syndrome | |||
| Jervell and Lange-Nielsen syndrome | 220400 | KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Jervell and Lange-Nielsen syndrome 2 | 612347 | KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 |
| Joubert syndrome 5 | 610188 | CEP290 | centrosomal protein 290kDa |
| Juvenile polyposis syndrome, infantile form | 174900 | BMPR1A | bone morphogenetic protein receptor, type IA |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 175050 | SMAD4 | SMAD family member 4 |
| Keratitis | |||
| Keratitis | 148190 | PAX6 | paired box 6 |
| Keratitis-ichthyosis-deafness syndrome | 148210 | GJB2 | gap junction protein, beta 2, 26kDa |
| Keratoderma, palmoplantar, with deafness | 148350 | GJB2 | gap junction protein, beta 2, 26kDa |
| Keratosis palmoplantaris striata II | 612908 | DSP | desmoplakin |
| Kniest dysplasia | 156550 | COL2A1 | collagen, type II, alpha 1 |
