GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.310 Biomarker disease BEFREE The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. 24604124 2014
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.310 Biomarker disease CTD_human Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 16172043 2006