Disease: Congenital disorder of glycosylation type 2E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 Biomarker disease GENOMICS_ENGLAND A new mutation in COG7 extends the spectrum of COG subunit deficiencies. 19577670 2009
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 Biomarker disease GENOMICS_ENGLAND A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. 17356545 2007
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 GeneticVariation disease CLINVAR
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 15107842 2004
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 Biomarker disease CTD_human
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		0.600 CausalMutation disease CLINVAR