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: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2005 2005
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations
phenotype Cardiovascular Diseases Disease or Syndrome 305 3 0.010 None 1.000 1 2007 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2011 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2010 2010
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.300 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.330 None 1.000 4 2017 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2013 2013
CUI: C0376154
Disease: Skin callus
Skin callus
disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2018 2018
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2017 2017
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2016 2016
CUI: C0264766
Disease: Rheumatic mitral stenosis
Rheumatic mitral stenosis
disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 1991 1991
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2019 2019
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
disease Digestive System Diseases Disease or Syndrome 46 15 0.300 None 1.000 1 2011 2011
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased
phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
Progressive intrahepatic cholestasis (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.140 None 1.000 5 2 2004 2018
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.030 None 1.000 3 2010 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.080 None 1.000 8 2009 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.020 None 1.000 2 2017 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.200 None 1.000 1 2014 2014
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.220 None 1.000 3 2009 2017
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2013 2013
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic
phenotype Pathological Conditions, Signs and Symptoms Body Substance 5 0.300 None 1.000 1 2019 2019
CUI: C0085635
Disease: Photopsia
Photopsia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 0.010 None 1.000 1 2019 2019