rs190521996, PMM2

N. diseases: 12
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 CausalMutation CLINVAR Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. 19396570 2009
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
0.700 CausalMutation CLINVAR