rs786204597, GJB2

N. diseases: 2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss. 25012701 2015
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729 2014
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. 23967136 2013
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 22695344 2012
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR [Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 22567861 2012
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084 2011
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients]. 19567088 2009
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 GeneticVariation CLINVAR GJB2: the spectrum of deafness-causing allele variants and their phenotype. 15365987 2004
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR