Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. | 28418496 | 2017 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). | 25820994 | 2015 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. | 24603341 | 2014 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. | 22736946 | 2012 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Macular dystrophy in a Japanese family with fundus albipunctatus. | 12788147 | 2003 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. | 12967826 | 2003 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. | 11675386 | 2001 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. | 11470705 | 2001 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. | 11078852 | 2000 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. | 11053296 | 2000 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. | 11053295 | 2000 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. | 10369264 | 1999 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | UNIPROT | 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. | 10617778 | 1999 | |||||
Fundus Albipunctatus
|
0.800 | GeneticVariation | CLINVAR | ||||||||
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
|
0.700 | CausalMutation | CLINVAR |