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: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly
disease Congenital Abnormality 2 0.100 None 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
group Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2010 2010
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology
phenotype Anatomical Abnormality 2 1 0.100 None 0
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0
Abnormality of the cerebral vasculature
disease Anatomical Abnormality 18 0.100 None 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline
disease Anatomical Abnormality 2 1 0.100 None 1.000 1 1 2019 2019
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
disease Anatomical Abnormality 16 0.100 None 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis
disease Anatomical Abnormality 8 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.030 None 1.000 3 2012 2015
CUI: C0158784
Disease: Accessory skeletal muscle
Accessory skeletal muscle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma
disease Neoplasms Neoplastic Process 65 0.010 None < 0.001 1 2015 2015
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.010 None 1.000 1 2018 2018
CUI: C2732979
Disease: Acquired long QT syndrome
Acquired long QT syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 14 8 0.010 None 1.000 1 2017 2017
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2018 2018
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome
disease Disease or Syndrome 7 0.020 None 1.000 2 2019 2019
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 10 6 0.070 None 1.000 7 2016 2019
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis
disease Infections Disease or Syndrome 116 25 0.010 None 1.000 1 2017 2017
CUI: C2118460
Disease: Acute colitis
Acute colitis
disease Digestive System Diseases Disease or Syndrome 83 0.010 None 1.000 1 2017 2017
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 2010 2010
Acute exacerbation of chronic obstructive airways disease
phenotype Respiratory Tract Diseases Disease or Syndrome 63 1 0.010 None 1.000 1 2019 2019
Acute exacerbation of chronic obstructive bronchitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 0.010 None 1.000 1 2012 2012