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)
0.700 Biomarker CTD_human

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442

1997

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 9285800

1997

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. 9328482

1997

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479

1998

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). 11102979

2000

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883

2000

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 10982180

2000

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). 11438992

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. 11584050

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200

2001

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394

2002

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR Functional study of GJB2 in hereditary hearing loss. 12352684

2002

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 GeneticVariation CLINVAR Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. 12189493

2002