Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. 26043044

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. 26252218

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 25288386

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. 24158611

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645

2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 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
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 GeneticVariation 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