Disease: Congenital disorder of glycosylation type 1w ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 GeneticVariation disease BEFREE Our report expands both the genotype and phenotype of STT3A-CDG; demonstrating, as in most types of CDG, that there are multiple disease-causing variants in STT3A. 30701557 2019
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 GeneticVariation disease UNIPROT Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 GermlineCausalMutation disease ORPHANET Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 Biomarker disease CTD_human
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		0.710 CausalMutation disease CLINVAR