Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002