Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR A genetic basis for mechanosensory traits in humans. 22563300

2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Experience of targeted Usher exome sequencing as a clinical test. 24498627

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 20440071

2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 25333064

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. 26496393

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194

2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 26927203

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 22009552

2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. 10738000

2000
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 25366773

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. 18452394

2008
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 25333064

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 18665195

2009
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 18641288

2008
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469

2009