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: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 19 0.100 None 0
CUI: C0279084
Disease: Kaposi's sarcoma classical type
Kaposi's sarcoma classical type
disease Neoplasms; Infections Neoplastic Process 26 3 0.010 None 1.000 1 2015 2015
Juvenile pauciarticular chronic arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.400 None 1.000 1 1 2013 2013
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.100 None 1.000 1 1 2013 2013
Increased lactate dehydrogenase activity
phenotype Finding 27 0.100 None 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level
phenotype Finding 28 2 0.100 None 0
Rheumatoid Arthritis, Systemic Juvenile
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 42 0.100 None 1.000 1 1 2013 2013
CUI: C0029191
Disease: Orchitis
Orchitis
phenotype Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 30 0.100 None 0
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 33 1 0.100 None 0
CUI: C0152031
Disease: Joint swelling
Joint swelling
phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
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: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness
phenotype Finding 35 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised
phenotype Finding 36 0.100 None 0
CUI: C2936380
Disease: Neointima
Neointima
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0.200 None 1.000 1 2006 2006
Autoimmune Primary Adrenal Insufficiency
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18 0.020 None 1.000 2 2 2014 2016
CUI: C0018991
Disease: Hemiplegia
Hemiplegia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE
phenotype Finding 41 0.100 None 0
CUI: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 0.300 None 1.000 1 2011 2011
CUI: C4551595
Disease: Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 1
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 0.300 None 1.000 1 2011 2011
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate
phenotype Respiratory Tract Diseases Finding 43 0.100 None 0
Addison's disease due to autoimmunity
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.020 None 1.000 2 2 2014 2016
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 45 0.300 None 1.000 1 2013 2013