Disease: Congenital disorder of glycosylation type 1r ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GermlineCausalMutation disease ORPHANET DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease GENOMICS_ENGLAND DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GeneticVariation disease UNIPROT DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease GENOMICS_ENGLAND DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 CausalMutation disease CLINVAR
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 GeneticVariation disease CLINVAR
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		0.700 Biomarker disease CTD_human