Gene: RDH12 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 Biomarker disease GENOMICS_ENGLAND Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. 31505163 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease BEFREE A 41-year-old woman affected by retinitis pigmentosa with genetic confirmation with mutation in RDH12 gene had a best-corrected visual acuity of 20/50 in both eyes. 31801355 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease BEFREE Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. 23900199 2013
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease BEFREE Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. 21151602 2010
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease BEFREE Heterozygous mutations in RDH12 can cause autosomal dominant RP with a late onset and relatively mild severity. 18779497 2008
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease LHGDN Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. 17512964 2007
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 Biomarker disease CTD_human Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. 16968212 2007
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.660 GeneticVariation disease BEFREE The retinal disease in persons with RDH12 mutations in the homozygous (p.G127X, p.Q189X, p.Y226C, p.A269GfsX1, and p.L274P) or compound heterozygous state (p.R65X/p.A269GfsX1, p.H151D/p.T155I, p.H151D/p.A269GfsX1) was diagnosed initially as Leber congenital amaurosis (LCA) or early-onset retinitis pigmentosa. 17389517 2007