Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754 2019
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186 2016
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 26252218 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. 25625422 2015
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. 24256046 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation disease CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. 25266519 2014
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. 23967136 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation disease CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes. 22991996 2013
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408 2012
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation disease CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756 2012
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344 2012
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation disease CLINVAR [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 22567861 2012