KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Primary sclerosing cholangitis ×
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 		0.010 AlteredExpression disease BEFREE Histological staining of Trx1/TrxR1 revealed elevated nuclear Trx1 and TrxR1 staining within cholangiocytes as well as an overall periportal increase in expression in PSC/IBD. 29852184 2018