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: C0003129
Disease: Anoxemia
Anoxemia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2008 2008
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.300 None 1.000 1 2008 2008
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: C0242184
Disease: Hypoxia
Hypoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 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: 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
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: 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: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.120 None 1.000 2 2005 2008
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: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C3279336
Disease: Impaired gluconeogenesis
Impaired gluconeogenesis
phenotype Finding 3 0.100 None 0
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: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
disease Disease or Syndrome 12 0.100 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.080 None 0.875 8 1995 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.050 None 1.000 5 1993 2007
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.050 None 1.000 5 1993 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 1.000 4 1996 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2015 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.030 None 1.000 3 1996 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 0.500 2 2014 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.020 None 1.000 2 2005 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 0.500 2 2014 2018