rs780581250, PMM2

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 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
0.700 GeneticVariation UNIPROT
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
0.010 GeneticVariation BEFREE However, patients carrying the mutation 548T-->C had less severe disease, e.g., no pericardial effusions, malnutrition, or clinical coagulation disturbances. 11409861 2001