Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496 2017
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Only 2 (4% [CI, 0.01% to 15%]) had evidence of the phenotypes predicted by an MDR result (fundus albipunctatus due to RDH5 and variegate porphyria due to PPOX). 28654958 2017
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease BEFREE RDH5 retinopathy (fundus albipunctatus) with preserved rod function. 25170858 2015
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. 25820994 2015
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. 25820994 2015
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GermlineCausalMutation disease ORPHANET This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. 25820994 2015
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy. 24246574 2014
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. 24603341 2014
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GermlineCausalMutation disease ORPHANET We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families. 22736946 2012
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. 22669287 2012
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families. 22736946 2012
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT We identified two novel disease-causing RDH5 mutations in Pakistani families with FA, which will improve diagnosis and genetic counseling, and may even lead to treatment of this disease in these families. 22736946 2012
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. 20829743 2011
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 21529959 2011
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease BEFREE Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 21529959 2011
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease GENOMICS_ENGLAND Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 21529959 2011
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. 20829743 2011
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. 18363170 2008
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Sixteen consecutive patients with FA (from 1993 to 2003; eight males, eight females; mean age, 25.4 years) with an RDH5 gene mutation were studied. 15790919 2005
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. 15007239 2004
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. 15007239 2004
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 15302662 2004
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE We suggest that the macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus. 12788147 2003
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 12967826 2003