rs104894407, GJB2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972 2009
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
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
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758 2003
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763 2001
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000 2001
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696 2000
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796 1998
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.800 CausalMutation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.710 GeneticVariation BEFREE To dissect the pathomechanisms that result in diverse phenotypes of dominant GJB2 mutations, we studied the effect of three Cx26 mutants (DeltaE42, D66H and R75W) identified in individuals with PPK/HI, and another (W44C) present in individuals with non-syndromic HI on gap junctional intercellular communication. 11493646 2001
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.710 CausalMutation CLINVAR
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. 18758381 2008
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Molecular epidemiology of DFNB1 deafness in France. 15070423 2004
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 10376574 1999