GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Sensorineural Hearing Loss (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894404
rs104894404
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.010 GeneticVariation BEFREE A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family. 29665173 2018