DEFB4B, defensin beta 4B, 100289462

N. diseases: 166; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.020 AlteredExpression disease BEFREE Our data show that HBD2 serum levels and tissue expression are increased in PSC subjects, suggesting that this arm of innate immunity may be important in the etiopathogenesis of PSC. 28300822 2017
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
0.020 Biomarker disease BEFREE Immunobloting analysis revealed hBD-2 protein in bile in 1 of 3 patients with PSC, 1 of 3 with PBC, and each of 6 with hepatolithiasis; in contrast, hBD-1 was detectable in all bile samples examined. 15382127 2004