GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931593
rs28931593
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		T 0.700 CausalMutation CLINVAR The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 16059934 2005