Disease: Congenital Disorder Of Glycosylation, Type IIH ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease BEFREE We propose to call this new disorder CDG-IIh or CDG-II/COG8. 17331980 2007
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease GENOMICS_ENGLAND We propose to call this new disorder CDG-IIh or CDG-II/COG8. 17331980 2007
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 GermlineCausalMutation disease ORPHANET We propose to call this new disorder CDG-IIh or CDG-II/COG8. 17331980 2007
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease BEFREE The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8). 17220172 2007
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease GENOMICS_ENGLAND The Cog8 defect described here represents a novel type of CDG-II, which we propose to name as CDG-IIh or CDG caused by Cog8 deficiency (CDG-II/Cog8). 17220172 2007
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease GENOMICS_ENGLAND Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. 11980916 2002
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 Biomarker disease CTD_human
CUI: C1970021
Disease: Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIH 		0.720 CausalMutation disease CLINVAR