GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Hearing loss associated with syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0395976
Disease: Hearing loss associated with syndrome
Hearing loss associated with syndrome 		0.010 GeneticVariation disease BEFREE Autosomal recessive non-syndromal deafness is an extremely heterogeneous condition with at least 19 loci (DFNB1-19) already described. 10196710 1999