Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		0.010 GeneticVariation disease BEFREE We report a new CDG-II patient harbouring a p.R729W missense mutation in COG4 combined with a submicroscopical deletion. 19494034 2009