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: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381 2015
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526 2015
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887 2011
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		T 0.800 GeneticVariation CLINVAR Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924 2010
dbSNP: rs148660051
rs148660051
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		0.800 GeneticVariation UNIPROT