Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life
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Busca la enfermedad o gen a estudiar (Recomendable en inglés) |
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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 |
| Renal agenesis | 191830 | RET | ret proto-oncogene |
| Restrictive dermopathy, lethal | 275210 | LMNA | lamin A/C |
| Retinal dystrophy | |||
| Retinal dystrophy, early-onset severe | 248200 | ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Retinal dystrophy, early-onset severe | 613341 | LRAT | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) |
| Retinitis Pigmentosa | |||
| Retinitis Pigmentosa | NUDT19 | nudix (nucleoside diphosphate linked moiety X)-type motif 19 | |
| Retinitis Pigmentosa | MAPRE2 | microtubule-associated protein, RP/EB family, member 2 | |
| Retinitis pigmentosa 10 | 180105 | IMPDH1 | IMP (inosine 5'-monophosphate) dehydrogenase 1 |
| Retinitis pigmentosa 11 | 600138 | PRPF31 | PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) |
| Retinitis pigmentosa 13 | 600059 | PRPF8 | PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) |
| Retinitis pigmentosa 14 | 600132 | TULP1 | tubby like protein 1 |
| Retinitis pigmentosa 17 | 600852 | CA4 | carbonic anhydrase IV |
| Retinitis pigmentosa 19 | 601718 | ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Retinitis pigmentosa 20 | 613794 | RPE65 | retinal pigment epithelium-specific protein 65kDa |
| Retinitis pigmentosa 25 | 602772 | EYS | eyes shut homolog (Drosophila) |
| Retinitis pigmentosa 26 | 608380 | CERKL | ceramide kinase-like |
| Retinitis pigmentosa 3 | 300029 | RPGR | retinitis pigmentosa GTPase regulator |
| Retinitis pigmentosa 30 | 607921 | FSCN2 | fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) |
| Retinitis pigmentosa 31 | 609923 | TOPORS | topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase |
| Retinitis pigmentosa 33 | 610359 | SNRNP200 | small nuclear ribonucleoprotein 200kDa (U5) |
| Retinitis pigmentosa 35 | 610282 | SEMA4A | sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
| Retinitis pigmentosa 36 | 610599 | PRCD | progressive rod-cone degeneration |
| Retinitis pigmentosa 37 | 611131 | NR2E3 | nuclear receptor subfamily 2, group E, member 3 |
| Retinitis pigmentosa 38 | 613862 | MERTK | c-mer proto-oncogene tyrosine kinase |
| Retinitis pigmentosa 39 | 613809 | USH2A | Usher syndrome 2A (autosomal recessive, mild) |
| Retinitis pigmentosa 4, autosomal dominant or recessive | 613731 | RHO | rhodopsin |
| Retinitis pigmentosa 41 | 612095 | PROM1 | prominin 1 |
| Retinitis pigmentosa 42 | 612943 | KLHL7 | kelch-like family member 7 |
| Retinitis pigmentosa 45 | 613767 | CNGB1 | cyclic nucleotide gated channel beta 1 |
| Retinitis pigmentosa 55 | 613575 | ARL6 | ADP-ribosylation factor-like 6 |
| Retinitis pigmentosa 7 | 608133 | PRPH2 | peripherin 2 (retinal degeneration, slow) |
| Retinitis pigmentosa 9 | 180104 | RP9 | retinitis pigmentosa 9 (autosomal dominant) |
| Retinitis pigmentosa-12, autosomal recessive | 600105 | CRB1 | crumbs homolog 1 (Drosophila) |
| Retinitis pigmentosa-50 | 613194 | BEST1 | bestrophin 1 |
| Retinitis pigmentosa, concentric | 613194 | BEST1 | bestrophin 1 |
| Retinitis pigmentosa, digenic | 608133 | PRPH2 | peripherin 2 (retinal degeneration, slow) |
| Retinitis pigmentosa, juvenile | 604393 | AIPL1 | aryl hydrocarbon receptor interacting protein-like 1 |
| Retinitis pigmentosa, juvenile | 613341 | LRAT | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) |
| Retinitis pigmentosa, juvenile, autosomal recessive | 604232 | SPATA7 | spermatogenesis associated 7 |
| Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | 300455 | RPGR | retinitis pigmentosa GTPase regulator |
| Retinitis punctata albescens | |||
| Retinitis punctata albescens | 136880 | PRPH2 | peripherin 2 (retinal degeneration, slow) |
| Retinitis punctata albescens | 136880 | RHO | rhodopsin |
| Retinoblastoma | 180200 | RB1 | retinoblastoma 1 |
| Retinoblastoma, trilateral | 180200 | RB1 | retinoblastoma 1 |
| Rett syndrome | 312750 | MECP2 | methyl CpG binding protein 2 (Rett syndrome) |
| Rett syndrome, preserved speech variant | 312750 | MECP2 | methyl CpG binding protein 2 (Rett syndrome) |
| Rhabdomyosarcoma 2, alveolar | 268220 | PAX3 | paired box 3 |
| Rippling muscle disease | 606072 | CAV3 | caveolin 3 |
| Robinow syndrome, autosomal recessive | 268310 | ROR2 | receptor tyrosine kinase-like orphan receptor 2 |
| Robinow-Sorauf syndrome | 180750 | TWIST1 | twist basic helix-loop-helix transcription factor 1 |
| Roussy-Levy syndrome | |||
| Roussy-Levy syndrome | 180800 | PMP22 | peripheral myelin protein 22 |
| Roussy-Levy syndrome | 180800 | MPZ | myelin protein zero |
