Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496

2017
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 25820994

2015
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. 24603341

2014
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 22736946

2012
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Macular dystrophy in a Japanese family with fundus albipunctatus. 12788147

2003
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 12967826

2003
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 11675386

2001
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. 11470705

2001
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. 11078852

2000
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. 11053296

2000
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. 11053295

2000
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 10617778

1999
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
0.700 GeneticVariation UNIPROT Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 10369264

1999