Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN 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
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 GeneticVariation LHGDN Expression levels of Cx26 are reduced in many breast tumors. 11872627

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.030 GeneticVariation LHGDN Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 11912510

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation LHGDN Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 11935342

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 AlteredExpression LHGDN Retroviral delivery of connexin genes to human breast tumor cells inhibits in vivo tumor growth by a mechanism that is independent of significant gap junctional intercellular communication. 12042301

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. 12081719

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 12172392

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN We extended the phenotypic spectrum of GJB2-related disease and recommend GJB2 mutation screening also in cases of progressive HL, and recurrent SSNHL. 12189487

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. 12189487

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN The difference observed in Cx26 prevalence can be explained by the clinical selection of group 2, which ensures minimum risk of including cases of acquired HI. 12212857

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 AlteredExpression LHGDN In the Western blots in arachnoid villi and meningiomas, Cx26 and Cx43 were shown at bands with molecular weights of 26 kD and 42-47 kD, respectively. 12484567

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation LHGDN In contrast, most recessive Cx26 mutations (identified in DFNB1 patients) resulted in a simple loss of channel activity. 12505163

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.020 PosttranslationalModification LHGDN In the majority of esophageal tumors, Cx26 expression is low or totally absent. 12557263

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. 12746422

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN [The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss]. 12810983

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. 12833397

2003
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0011053
Disease: Deafness
Deafness 		0.450 GeneticVariation LHGDN Transport and function of cx26 mutants involved in skin and deafness disorders. 14681041

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.100 GeneticVariation LHGDN We examined the subcellular localization and function of several Cx26 mutants that exhibit both sensorineural deafness and various skin disease phenotypes. 14681041

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 AlteredExpression LHGDN Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells. 14719096

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. 15064611

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece. 15138772

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. 15274422

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.230 AlteredExpression LHGDN By multivariate analysis, a lower level of Cx 26 and Cx 32 mRNA correlated significantly with a risk of HCC recurrence (P = 0.033) and recurrence-related mortality (P = 0.031, P = 0.031). 15334670

2004