GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Familial Mediterranean Fever ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 Biomarker disease BEFREE These findings suggest that the Gaucher, connexin 26, and familial Mediterranean fever mutations are over 2000 yr old, that the cystic fibrosis 3849 + 10kb C->T and factor XI type III mutations had a common origin in Ashkenazi and Roman Jews, and that other mutations prevalent among Ashkenazi Jews are of more recent origin. 10599695 1999