PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR