PCK1, phosphoenolpyruvate carboxykinase 1, 5105

N. diseases: 73; N. variants: 12
Disease: Phosphoenolpyruvate carboxykinase deficiency ×
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: rs201186470
rs201186470 		1.000 0.120 20 57563691 missense variant G/A snv 1.2E-03 1.1E-03
CUI: C0268194
Disease: Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2014 2017
dbSNP: rs202197769
rs202197769 		1.000 0.120 20 57561545 missense variant T/C snv 8.8E-05 3.5E-05
CUI: C0268194
Disease: Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0