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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease Disease or Syndrome 55 28 0.010 None 1.000 1 1978 1978
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology
disease Anatomical Abnormality 36 1 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 1981 1981
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12 0.020 None 1.000 2 2012 2016
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.050 None 1.000 5 1984 2009
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2009 2009
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis
disease Eye Diseases Disease or Syndrome 90 30 0.020 None 1.000 2 1989 2016
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 2007 2007
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.010 None 1.000 1 2007 2007
Acute Generalized Exanthematous Pustulosis
disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
disease Immune System Diseases Disease or Syndrome 294 49 0.100 None 0.933 15 1989 2017
CUI: C0400914
Disease: Acute hepatitis C
Acute hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 8 2 0.010 None 1.000 1 2013 2013
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 2011 2011
CUI: C1279945
Disease: Acute interstitial pneumonia
Acute interstitial pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 88 8 0.010 None 1.000 1 2011 2011
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.030 None 1.000 3 1979 1981
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.050 None 0.800 5 1 1988 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 2007 2007
Acute myeloid leukemia with mutated NPM1
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
disease Stomatognathic Diseases Disease or Syndrome 130 49 0.010 None 1.000 1 2003 2003
Acute post-streptococcal glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 7 0.010 None 1.000 1 1983 1983
CUI: C0546994
Disease: Acute viral encephalitis
Acute viral encephalitis
group Infections; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
Addison's disease due to autoimmunity
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 44 18 0.040 None 1.000 4 2010 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.030 None 1.000 3 1997 2004
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2 2019 2019