GJB3, gap junction protein beta 3, 2707

N. diseases: 79; N. variants: 16
Disease: DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3148751
Disease: DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY
DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
CUI: C3148751
Disease: DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY
DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY 		0.300 Biomarker disease GENOMICS_ENGLAND