PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Cerebellar Hypoplasia ×
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: rs28936415
rs28936415 		0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs80338700
rs80338700 		0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0