rs387907203, COG4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CUI: C3150736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
0.700 CausalMutation CLINVAR
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
0.010 GeneticVariation BEFREE Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient with 2 novel mutations leading to p.E233X and p.L773R; with p.E233X being a de novo mutation. 21185756 2011