PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Ventricular hypertrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs190521996
rs190521996
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0340279
Disease:
Ventricular hypertrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs80338701
rs80338701
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0340279
Disease:
Ventricular hypertrophy 		A 0.700 CausalMutation CLINVAR