XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
Disease: Gronblad-Strandberg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006