PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338707
rs80338707
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C4021085
Disease:
Abnormality of brain morphology
A 0.700 CausalMutation CLINVAR