rs28931593, GJB2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 17993581 2008
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214 2005
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604 2003
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 12372058 2002
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 10633135 2000
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. 10757647 2000
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 GeneticVariation UNIPROT Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 9856479 1998
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.800 CausalMutation CLINVAR
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 16059934 2005
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.700 CausalMutation CLINVAR
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
0.050 GeneticVariation BEFREE Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma. 24975403 2014
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
0.050 GeneticVariation BEFREE HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). 21040787 2011
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
0.050 GeneticVariation BEFREE HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching). 20096356 2010
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
0.050 GeneticVariation BEFREE Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. 20583176 2010
Keratoderma, Palmoplantar
CUI: C4551675
Disease: Keratoderma, Palmoplantar
0.050 GeneticVariation BEFREE Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK. 12372058 2002
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE To the best of our knowledge, this is the first report from India on p.R75Q mutation in the GJB2 gene with nonsyndromic hearing loss. 25393658 2015
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.020 GeneticVariation BEFREE Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma. 24975403 2014
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214 2005
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.020 GeneticVariation BEFREE We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. 12372058 2002
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
0.010 GeneticVariation BEFREE The disease is not associated with palmar and plantar keratosis in any of the family members, suggesting that R75Q substitution is not sufficient for the development of the complete syndromic phenotype. 15996214 2005
Keratosis
CUI: C0022593
Disease: Keratosis
0.010 GeneticVariation BEFREE The disease is not associated with palmar and plantar keratosis in any of the family members, suggesting that R75Q substitution is not sufficient for the development of the complete syndromic phenotype. 15996214 2005