PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital disorder of glycosylation type 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.030 GeneticVariation disease BEFREE The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomannomutase 2 (PMM2) and phosphomannose isomerase (MPI or PMI), respectively. 21949237 2011
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.030 Biomarker disease BEFREE PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10 patients). 11875054 2002
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.030 Biomarker disease BEFREE The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency. 11134235 2001