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: C0267917
Disease: Acute cholangitis
Acute cholangitis
disease Digestive System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0343752
Disease: Acute HIV infection
Acute HIV infection
disease Infections; Immune System Diseases Disease or Syndrome 48 0.010 None 1.000 1 2019 2019
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 104 0.010 None 1.000 1 2015 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2017 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2020 2020
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2018 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2017 2017
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2008 2008
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None 1.000 1 2018 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2018 2019
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2019 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2013 2013
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2009 2009
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.130 None 1.000 3 2 2006 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.020 None 1.000 2 2017 2017
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2008 2008
CUI: C0085278
Disease: Antiphospholipid Syndrome
Antiphospholipid Syndrome
disease Immune System Diseases Disease or Syndrome 99 17 0.010 None 1.000 1 2017 2017
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None < 0.001 1 2018 2018
CUI: C3273254
Disease: Arterionephrosclerosis
Arterionephrosclerosis
disease Disease or Syndrome 11 0.020 None 1.000 2 2011 2011
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.030 None 1.000 3 2017 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2012 2012
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.030 None 1.000 3 2017 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.020 None 1.000 2 2017 2018
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.100 None 1.000 20 2 2003 2019
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.010 None 1.000 1 2019 2019