PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
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: rs201960869
rs201960869 		1.000 0.080 16 8847751 missense variant G/A;T snv 8.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2007
dbSNP: rs28936415
rs28936415 		0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.740 1.000 14 1997 2015
dbSNP: rs387906824
rs387906824 		1.000 0.080 16 8806377 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2007
dbSNP: rs398123311
rs398123311 		1.000 0.080 16 8847770 missense variant A/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2007
dbSNP: rs769839273
rs769839273 		1.000 0.080 16 8806363 missense variant C/G;T snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 14 1997 2007
dbSNP: rs770458492
rs770458492 		1.000 0.080 16 8806370 missense variant C/G snv 1.2E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 14 1997 2007
dbSNP: rs80338702
rs80338702 		1.000 0.080 16 8811126 missense variant T/C snv 9.9E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs80338705
rs80338705 		1.000 0.080 16 8847737 missense variant A/G;T snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs80338706
rs80338706 		1.000 0.080 16 8847761 missense variant C/G snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs148032587
rs148032587 		0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 12 1997 2017
dbSNP: rs760265100
rs760265100 		16 8797935 missense variant C/G snv 1.7E-05 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 12 1997 2017
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: rs80338708
rs80338708 		1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 12 1997 2017
dbSNP: rs80338709
rs80338709 		0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2017
dbSNP: rs398123309
rs398123309 		1.000 0.080 16 8813090 missense variant G/A;C snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1998 2017
dbSNP: rs139716296
rs139716296 		1.000 0.080 16 8804845 splice donor variant T/C snv 6.8E-05 7.0E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1999 2014
dbSNP: rs1258107584
rs1258107584 		1.000 0.080 16 8832245 intron variant C/T snv 3.5E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2007 2016
dbSNP: rs368582085
rs368582085 		1.000 0.080 16 8811090 missense variant T/C snv 8.6E-05 7.0E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2017
dbSNP: rs200503569
rs200503569 		1.000 0.080 16 8806383 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2005 2015
dbSNP: rs1057516376
rs1057516376 		1.000 0.080 16 8811144 frameshift variant A/- delins
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1999 2005
dbSNP: rs1057517110
rs1057517110 		0.925 0.160 16 8811086 missense variant T/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 2 2001 2003
dbSNP: rs1060499598
rs1060499598 		1.000 0.080 16 8804844 splice donor variant G/A snv 1.2E-05 2.1E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2009
dbSNP: rs1555448899
rs1555448899 		1.000 0.080 16 8801836 stop gained T/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2008 2015