USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.100 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.100 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019