Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 26444186

2016

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2016

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044

2016

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation 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

2016

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. 25625422

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. 24256046

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. 23967136

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2013

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation 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

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344

2013

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.600 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645

2013