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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation 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
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation 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
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.130 GeneticVariation LHGDN A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.130 GeneticVariation LHGDN A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 18787097

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population. 19043807

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Although the GJB2 mutations are likely not responsible for these additional clinical manifestations, this study underscores the importance of considering GJB2 mutational analysis in individuals with more than just isolated SNHL given the high prevalence of GJB2-related hearing loss. 17455295

2007
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 Audiometric testing revealed five (22.7%) with unrecognized sensorineural hearing loss; however, on genetic evaluation, none harbored a connexin 26 mutation. 16650419

2006
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: 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
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. 17368814

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		0.040 Biomarker LHGDN Congenital CMV infection and GJB2 mutations were identified in 15% and 24% of the patients, respectively.HHV-6 was not detected. 17299707

2007
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: 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: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Connexin 26 mutations in autosomal recessive deafness disorders: a review. 17365058

2007
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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 AlteredExpression LHGDN Cx26 inhibits breast MDA-MB-435 cell tumorigenic properties by a gap junctional intercellular communication-independent mechanism. 16777986

2006
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: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.010 AlteredExpression LHGDN Decreased expression of connexin-30 and aberrant expression of connexin-26 in human head and neck cancer. 17695503

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. 18294049

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 AlteredExpression LHGDN Downregulation of connexin 26 in human lung cancer is related to promoter methylation. 15386363

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Epidemiological study of nonsyndromic hearing loss in Sicilian newborns. 17568408

2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471

2004
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