Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. 22668073

2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 CausalMutation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 GeneticVariation CLINVAR