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: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 CausalMutation CLINVAR Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 18294064

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 CausalMutation CLINVAR GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 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
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 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: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 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: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 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: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 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: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis. 26749107

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 26896187

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. 27169813

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. 27247933

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR A Mayan founder mutation is a common cause of deafness in Guatemala. 26346709

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province. 27534436

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. 26778469

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 26896187

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2. 27623246

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 CausalMutation CLINVAR A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family. 25708704

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Bioinformatic Analysis of GJB2 Gene Missense Mutations. 25388846

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss. 26553399

2015