USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 Biomarker group BEFREE These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2. 30012035 2018
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation group CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group CLINVAR Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 10775529 2000