PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital Disorder Of Glycosylation, Type In ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894533
rs104894533 		0.925 0.080 16 8801827 missense variant T/G snv 8.0E-06
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs398123312
rs398123312 		0.925 0.080 16 8801827 missense variant TA/GC mnv
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015