rs111033294, GJB2

N. diseases: 10
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 CausalMutation CLINVAR The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. 22796187 2013
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation 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 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481 2013
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR Connexin26 deafness associated mutations show altered permeability to large cationic molecules. 18684989 2008
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907 2005
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879 2005
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation 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 CausalMutation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372 2004
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394 2002
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR Connexin 26 studies in patients with sensorineural hearing loss. 11556849 2001
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.700 CausalMutation CLINVAR Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. 11493200 2001
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
0.700 CausalMutation CLINVAR
Mutilating keratoderma
CUI: C0265964
Disease: Mutilating keratoderma
0.700 CausalMutation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 CausalMutation CLINVAR
Knuckle pads, leuconychia and sensorineural deafness
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
0.700 CausalMutation CLINVAR
Progressive hearing loss stapes fixation
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
0.700 CausalMutation CLINVAR
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
0.700 CausalMutation CLINVAR
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
0.700 CausalMutation CLINVAR
Deafness, Autosomal Recessive 1b
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
0.700 CausalMutation CLINVAR
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
0.700 CausalMutation CLINVAR