PCK1, phosphoenolpyruvate carboxykinase 1, 5105

N. diseases: 73; N. variants: 12
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.200 None 1.000 1 2003 2003
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2017 2017
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.010 None 1.000 1 2 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 2 1 2019 2019
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation
phenotype Cardiovascular Diseases Pathologic Function 113 0.300 None 1.000 1 2016 2016
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.300 None 1.000 1 2016 2016
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 154 0.300 None 1.000 1 2016 2016
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy
disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.100 None 0
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.010 None 1.000 1 2016 2016
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2009 2009
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.120 None 1.000 2 2017 2017
CUI: C3279336
Disease: Impaired gluconeogenesis
Impaired gluconeogenesis
phenotype Finding 3 0.100 None 0
Infection by Cryptococcus neoformans
disease Infections Disease or Syndrome 167 1 0.010 None 1.000 1 2011 2011
CUI: C0162275
Disease: Ketonuria
Ketonuria
disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure
disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2016 2016
CUI: C0023343
Disease: Leprosy
Leprosy
disease Infections Disease or Syndrome 190 120 0.010 None 1.000 1 2019 2019
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.010 None 1.000 1 2007 2007
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.380 None 1.000 10 2009 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2006 2006
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.030 None 1.000 3 2018 2019
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline
phenotype Finding 14 0.100 None 0