USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Abnormal macular morphology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		0.110 GeneticVariation phenotype BEFREE To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). 28704163 2018
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		0.110 CausalMutation phenotype CLINVAR