Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group BEFREE Overall, the findings indicated that biallelic RDH12 mutations are a common cause of early-onset retinal dystrophy and a rare cause of cone-rod dystrophy. 30134391 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 Biomarker group BEFREE A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies. 29528978 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 Biomarker group BEFREE <b>Conclusions</b>: Choroidal neovascularization may be a unique occurrence in <i>RDH12-</i>associated retinal dystrophy. 31424981 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group BEFREE Interestingly, of all the eight female RPGR mutation carriers in this family, only one female developed retinal dystrophy. 30289068 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group BEFREE Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. 28814713 2017
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 Biomarker group BEFREE Our results underline the clinical importance of complete and accurate sequence analysis of ORF15 for patients with retinal dystrophies. 27620828 2016
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group BEFREE RDH12 mutations account for approximately 7% of disease in our cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. 22065924 2011
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group BEFREE These defects are consistent with a ciliary function and were rescued by human RPGR but not by RPGR mutants causing retinal dystrophy. 19955120 2010
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group BEFREE Recent studies have linked the mutations in RDH12 to severe early-onset autosomal recessive retinal dystrophy. 17925390 2007
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 Biomarker group CTD_human Redundant and unique roles of retinol dehydrogenases in the mouse retina. 18048336 2007
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group BEFREE A total of 240 different RPGR mutations have been reported, including 24 novel ones in this work, which are associated with X-linked retinitis pigmentosa (XLRP) (95%), cone, cone-rod dystrophy, or atrophic macular atrophy (3%), and syndromal retinal dystrophies with ciliary dyskinesia and hearing loss (2%). 17195164 2007
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group BEFREE Mutations in RDH12 cause severe and progressive childhood onset autosomal-recessive retinal dystrophy, including Leber congenital amaurosis. 17130236 2007
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group BEFREE Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 CausalMutation group CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 Biomarker group CTD_human X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 11857109 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group CLINVAR
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 Biomarker group HPO
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group CLINVAR
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.420 GeneticVariation group BEFREE Mutations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent the most common genetic causes of congenital visual impairment in infants and children. 16806805 2006
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.420 Biomarker group CTD_human Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 12920076 2003
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.420 GeneticVariation group BEFREE Recently, mutations in RPGRIP were found to lead to the retinal dystrophy, Leber congenital amaurosis. 12140192 2002
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.420 GeneticVariation group CLINVAR
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.410 GeneticVariation group BEFREE A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 19956411 2009
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.410 Biomarker group GENOMICS_ENGLAND