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 The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 28000701

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 28894305

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 28512305

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 28512305

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 28894305

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. 28761320

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017

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 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 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 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 28005958

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation 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 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
1.000 GeneticVariation CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204

2016