Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life

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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