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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
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
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