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 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 GeneticVariation CLINVAR Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 12239718

2002
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 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 GeneticVariation CLINVAR Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. 16532460

2006
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 GeneticVariation CLINVAR Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. 11134236

2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Molecular genetics study of deafness in Brazil: 8-year experience. 17567887

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. 15964725

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis. 20639189

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. 20234132

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002
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 common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum. 20095872

2010
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR GJB2 mutations in Baluchi population. 18776652

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472

2009
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 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. 16222667

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 17041943

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. 18941476

2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. 21912263

2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. 12384501

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 GeneticVariation CLINVAR Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss. 24737404

2014