Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 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 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease 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
0.600 CausalMutation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 CausalMutation disease CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 CausalMutation disease 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
0.600 GeneticVariation disease CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease CLINVAR Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 24529908 2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 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 2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 CausalMutation disease 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
0.600 CausalMutation disease 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
0.600 GeneticVariation disease CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408 2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.600 GeneticVariation disease 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
0.600 GeneticVariation disease CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645 2013