USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517979
rs397517979
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs397517979
rs397517979
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 15241801 2004
dbSNP: rs397517979
rs397517979
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113 2000