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: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip
disease Anatomical Abnormality 6 1 0.100 None 0
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 2018 2018
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
disease Immune System Diseases Disease or Syndrome 294 49 0.010 None 1.000 1 2020 2020
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2012 2012
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2008 2008
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia
disease Neoplasms Neoplastic Process 160 3 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2017 2017
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 1996 1996
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 2019 2019
Adverse effects, not elsewhere classified
disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None 1.000 1 2003 2003
CUI: C1879312
Disease: Agyria
Agyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.410 None 1.000 1 2009 2009
CUI: C0002020
Disease: Alexithymia
Alexithymia
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 39 12 0.010 None 1.000 1 2019 2019
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.010 None < 0.001 1 2010 2010
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2001 2001
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2018 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.020 None 1.000 2 2018 2019
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.010 None 1.000 1 2017 2017
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.010 None 1.000 1 2019 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 1 2002 2002
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2008 2008