Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 Biomarker disease BEFREE C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected. 16079417 2005
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 Biomarker disease GENOMICS_ENGLAND We concluded that mutations in the Lec35/MPDU1 gene cause CDG.This novel type was termed CDG-If. 11733564 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 GeneticVariation disease BEFREE CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. 11733556 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 GeneticVariation disease UNIPROT CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. 11733556 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 GeneticVariation disease BEFREE We concluded that mutations in the Lec35/MPDU1 gene cause CDG.This novel type was termed CDG-If. 11733564 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 Biomarker disease GENOMICS_ENGLAND CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. 11733556 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 GeneticVariation disease UNIPROT We concluded that mutations in the Lec35/MPDU1 gene cause CDG.This novel type was termed CDG-If. 11733564 2001
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 Biomarker disease CTD_human
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 CausalMutation disease CLINVAR
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0.730 GeneticVariation disease CLINVAR