GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: Deafness, Autosomal Dominant 2B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		0.700 GeneticVariation disease UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		0.700 CausalMutation disease CLINVAR
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		0.700 Biomarker disease CTD_human