Gene: GJB2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease BEFREE 1) Diagnostic yields of GJB2 screens, imaging, and laboratory results per SNHL category; 2) Cost analysis comparing a sequential versus a simultaneous testing approach. 16015155 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE 346 patients (176 males, 170 females) with sensorineural hearing loss of 30dB HL or more, aged 21.8±19.9 years (including 147 children <14 years), underwent both genetic study for GJB2 and GJB6 mutations and electrocardiography. 27177978 2017
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease LHGDN Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. 15635064 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. 11968091 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease BEFREE Cx26 has been implicated in dominant (DFNA3) and recessive (DFNB1) forms of nonsyndromic sensorineural deafness. 12064630 2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. 12107817 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Cx26 mutations were found in 15 of 71 (21.1%) (67 families) children with HI. 14520102 2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. 18412859 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE 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 		0.700 GeneticVariation disease BEFREE GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. 23751281 2013
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. 25012701 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE GJB2 gene mutations mainly resulted in flat-type, profound-to-severe sensorineural hearing loss (SNHL). 28717060 2017
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease BEFREE DFNB1 (deafness, neurosensory, autosomal-recessive) is the most frequently affected locus. 30531641 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825 1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292 1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE A biracial family with nonsyndromic sensorineural deafness consistent with autosomal recessive inheritance was examined for connexin 26 (Cx26) mutations. 12169891 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease LHGDN 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 		0.700 GeneticVariation disease BEFREE A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. 14676473 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 GeneticVariation disease BEFREE A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family. 29665173 2018