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: C2931278
Disease: Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0268194
Disease: Phosphoenolpyruvate carboxykinase deficiency
Phosphoenolpyruvate carboxykinase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 2 0.300 None 1.000 1 1991 1991
CUI: C1849821
Disease: Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C3279336
Disease: Impaired gluconeogenesis
Impaired gluconeogenesis 		phenotype Finding 3 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		disease Disease or Syndrome 12 0.100 None 0
CUI: C0003129
Disease: Anoxemia
Anoxemia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2008 2008
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.300 None 1.000 1 2008 2008
CUI: C0242184
Disease: Hypoxia
Hypoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2008 2008
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 66 1 0.010 None 1.000 1 2019 2019
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections 		group Disease or Syndrome 78 1 0.010 None 1.000 1 2005 2005
CUI: C0003130
Disease: Anoxia
Anoxia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.300 None 1.000 1 2008 2008
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2005 2005
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 401 5 0.200 None 1.000 1 2009 2009
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2017 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.010 None 1.000 1 2014 2014
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2017 2017
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.010 None 1.000 1 2018 2018
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 2014 2014
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.110 None 1.000 1 2005 2005
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2019 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.020 None 1.000 2 2005 2013
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2005 2005