Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.100 CausalMutation group CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.100 CausalMutation group CLINVAR Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 20673862 2010
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.100 GeneticVariation group CLINVAR