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: rs199679165
rs199679165
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
dbSNP: rs199679165
rs199679165
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 17405132 2007