LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Congenital Disorders of Glycosylation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.020 GeneticVariation group BEFREE The most common type, phosphomannomutase-2 (PMM2)-CDG (CDG-Ia), is due to deficient PMM2 (Man-6-P → Man-1-P). 24474243 2014
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.020 Biomarker group BEFREE These results validate the general concept of using pro-Man-1-P substrates as potential therapeutics for CDG-I patients. 16079417 2005