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: rs397518036
rs397518036
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099 2014
dbSNP: rs397518036
rs397518036
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887 2011