RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: Leber Congenital Amaurosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE A significant number of EOSRD cases, often diagnosed as Leber congenital amaurosis (LCA13), are associated with mutations in the gene encoding retinol dehydrogenase 12 (RDH12). 31237438 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Mutations in RDH12 have been linked to Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa. 31505163 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE <b>Background</b>: Leber congenital amaurosis (LCA) due to RDH12 mutations typically manifests with severe vision loss and panretinal dystrophy. 31424981 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Defects in retinol dehydrogenase 12 (<i>RDH12</i>) account for 3.4%-10.5 % of Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a potential target for gene therapy. 30979730 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. 28513254 2017
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE RDH12 mutations have been linked to Leber Congenital Amaurosis. 28540421 2017
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. 28471114 2017
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease 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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Novel RDH12 sequence variations in Leber congenital amaurosis. 20736127 2010
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. 17512964 2007
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 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
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 Biomarker disease BEFREE RDH12 is involved in retinal degeneration in Leber's congenital amaurosis (LCA). 17512723 2007
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Mutations in RDH12 cause severe and progressive childhood onset autosomal-recessive retinal dystrophy, including Leber congenital amaurosis. 17130236 2007
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GermlineCausalMutation disease ORPHANET Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease BEFREE Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 15322982 2004
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 GeneticVariation disease CLINVAR
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.500 CausalMutation disease CLINVAR