PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Muscle hypotonia ×
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: rs80338701
rs80338701 		0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1997 2017
dbSNP: rs80338708
rs80338708 		1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1997 2017
dbSNP: rs28936415
rs28936415 		0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0