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: C4748212
Disease: IMMUNODEFICIENCY 57
IMMUNODEFICIENCY 57
disease Disease or Syndrome 1 1 0.400 strong 1.000 1 1 2018 2018
Dry age-related macular degeneration
phenotype Anatomical Abnormality 11 1 0.010 None 1.000 1 2019 2019
Swine influenza virus (viruses that normally cause infections in pigs)
disease Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0578878
Disease: Inflammation of large intestine
Inflammation of large intestine
phenotype Digestive System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C0578159
Disease: Antibiotic-associated diarrhea
Antibiotic-associated diarrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
Autoimmune Lymphoproliferative Syndrome Type 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2018 2018
CUI: C4324396
Disease: Immune-mediated hepatitis
Immune-mediated hepatitis
disease Disease or Syndrome 15 0.010 None 1.000 1 2012 2012
CUI: C3889979
Disease: Periodic Fever Syndrome
Periodic Fever Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 6 0.010 None 1.000 1 2020 2020
CUI: C0857841
Disease: Vaccinia virus infection
Vaccinia virus infection
disease Disease or Syndrome 25 0.010 None 1.000 1 2009 2009
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 7 0.010 None 1.000 1 2020 2020
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 29 0.010 None 1.000 1 2019 2019
CUI: C0276680
Disease: Infection by Candida albicans
Infection by Candida albicans
disease Infections Disease or Syndrome 30 0.010 None 1.000 1 2019 2019
CUI: C0155686
Disease: Acute myocarditis
Acute myocarditis
disease Cardiovascular Diseases Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.020 None 1.000 2 2016 2018
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2018 2018
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 48 4 0.010 None 1.000 1 2020 2020
Neutrophil extracellular trap formation
disease Disease or Syndrome 55 0.010 None 1.000 1 2018 2018
CUI: C0302809
Disease: Fulminant hepatitis
Fulminant hepatitis
disease Digestive System Diseases Disease or Syndrome 57 1 0.010 None 1.000 1 2019 2019
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease
disease Digestive System Diseases Disease or Syndrome 58 0.010 None 1.000 1 2019 2019
Gastrointestinal tract vascular insufficiency
disease Digestive System Diseases Disease or Syndrome 68 0.010 None 1.000 1 2017 2017
CUI: C2004435
Disease: Vascular insufficiency of intestine
Vascular insufficiency of intestine
disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 68 0.010 None 1.000 1 2017 2017
CUI: C0085293
Disease: Hepatitis E
Hepatitis E
disease Digestive System Diseases; Infections Disease or Syndrome 72 2 0.010 None 1.000 1 2019 2019
CUI: C1290886
Disease: Chronic inflammatory disorder
Chronic inflammatory disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 74 0.010 None 1.000 1 2013 2013
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis
group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.010 None 1.000 1 2019 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
disease Disease or Syndrome 81 10 0.020 None 1.000 2 2020 2020