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 CausalMutation disease CLINVAR The numbers of identified RDH5 mutations linked to fundus albipunctatus have increased considerably during recent years. 11675386 2001
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus. 11078852 2000
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 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 GeneticVariation disease BEFREE A homozygous1085delC/insGAAG mutation in the RDH5 gene produces fundus albipunctatus in Japanese patients. 10845614 2000
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease GENOMICS_ENGLAND
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 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 CausalMutation disease CLINVAR The authors screened two index patients diagnosed with fundus albipunctatus for mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing. 11470705 2001
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE We suggest that the macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctatus. 11812441 2002
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 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 GeneticVariation disease BEFREE Although the mutation of the RDH5 gene has been known as a causative gene of fundus albipunctatus, the Gly35Ser mutation in the RDH5 gene may be related to the pathogenesis of progressive retinal degeneration. 11448328 2001
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 BEFREE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. 11053295 2000
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease HPO
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE The numbers of identified RDH5 mutations linked to fundus albipunctatus have increased considerably during recent years. 11675386 2001
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 GeneticVariation disease BEFREE Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. 10369264 1999
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
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 ORPHANET
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity. 10617778 1999
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 12967826 2003
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