Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825

1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 9336442

1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. 9471561

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. 9600457

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine. 9710598

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Connexin mutations in deafness. 9716127

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. 9819448

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) 10049954

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) 10049954

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 10218527

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. 10501520

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Cx26 deafness: mutation analysis and clinical variability. 10544226

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. 10556284

1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Prevalent connexin 26 gene (GJB2) mutations in Japanese. 10633133

2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Prevalent connexin 26 gene (GJB2) mutations in Japanese. 10633133

2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 10713883

2000