Source: CLINVAR

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 Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. 27157150

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation 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 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. 26856745

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. 27624628

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation 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 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 CausalMutation CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204

2016
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 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 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 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 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 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology. 25252889

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 25991456

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

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: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 CausalMutation 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 Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		1.000 GeneticVariation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015