AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: Congenital disorder of glycosylation type 1A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0.010 Biomarker disease BEFREE Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia. 22959829 2012