Disease: COG5 congenital disorder of glycosylation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease GENOMICS_ENGLAND A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046 2017
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease GENOMICS_ENGLAND A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046 2017
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease GENOMICS_ENGLAND A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. 28960046 2017
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 CausalMutation disease CLINVAR COG5-CDG: expanding the clinical spectrum. 23228021 2012
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease GENOMICS_ENGLAND Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. 19690088 2009
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 Biomarker disease CTD_human
CUI: C3150876
Disease: COG5 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation 		0.600 GeneticVariation disease CLINVAR