USH2A, usherin, 7399

N. diseases: 88; N. variants: 327
Disease: Usher Syndrome ×
Source: INFERRED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. 29490346 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. 30245029 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 29196752 2017
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474 2017
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease 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
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. 26766544 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. 27624628 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125 2016
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 26310143 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 25910913 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Clinical heterogeneity in a family with mutations in USH2A. 25521520 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 25910913 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526 2015
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 25558175 2014