Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132

2007
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation CLINVAR Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 10775529

2000