PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital Disorder Of Glycosylation, Type In ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894533
rs104894533
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C2677590
Disease:
Congenital Disorder Of Glycosylation, Type In 		0.010 GeneticVariation BEFREE A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454 2015
dbSNP: rs398123312
rs398123312
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C2677590
Disease:
Congenital Disorder Of Glycosylation, Type In 		0.010 GeneticVariation BEFREE A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. 25355454 2015