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: C4013949
Disease: IMMUNODEFICIENCY 30
IMMUNODEFICIENCY 30
disease Disease or Syndrome 2 8 0.750 strong 1.000 11 8 1998 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.520 None 1.000 3 2013 2017
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.300 None 1.000 1 2013 2013
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.300 None 1.000 1 2005 2005
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.300 None 1.000 1 2005 2005
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.110 None 1.000 1 2015 2015
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
group Infections Disease or Syndrome 183 14 0.100 None 0.933 15 2008 2020
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 1.000 11 4 1999 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 1 2019 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 1.000 1 1 2019 2019
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
disease Disease or Syndrome 39 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.100 None 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0