USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.110 GeneticVariation phenotype BEFREE Interestingly, these same USH2A variants are also identified in another family with vision loss where subsequent clinical follow-up confirmed pre-existing hearing loss since early childhood, eventually resulting in a reassigned diagnosis of Usher syndrome. 31046701 2019
CUI: C0456909
Disease: Blindness
Blindness 		0.110 CausalMutation phenotype CLINVAR
CUI: C0456909
Disease: Blindness
Blindness 		0.110 Biomarker phenotype HPO