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 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 18324688

2008
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 Biomarker LHGDN Sixty-seven children with severe SNHL were analyzed for CMV and human herpesvirus 6 (HHV-6) infections and for GJB2 mutations. 17299707

2007
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: 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation LHGDN Four of 48 children with slight/mild sensorineural hearing loss were homozygous for the GJB2 V37I change. 16840571

2006
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: 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 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: 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: 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 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: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN The responsible genes in Japanese deafness patients and clinical application using Invader assay. 18368581

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Screening for gap junction protein beta-2 gene mutations in Malays with autosomal recessive, non-syndromic hearing loss, using denaturing high performance liquid chromatography. 18353197

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss. 18554165

2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN We sequenced the GJB2 and GJB6 genes to examine the role of mutations in these genes in 22 hearing loss patients. 18585793

2008
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: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. 17553572

2007
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: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection. 17426645

2007
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 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 16371502

2006
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. 15855033

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation LHGDN High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 16088916

2005