PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital Disorder Of Glycosylation, Type In ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.020 Biomarker disease BEFREE This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease. 27053713 2016
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		0.020 GeneticVariation disease BEFREE A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454 2015