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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2 2011 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 1 2018 2018
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2019 2019
Persistent Fetal Circulation Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 1 2018 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2017 2017
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.010 None 1.000 1 2019 2019
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.010 None 1.000 1 1 2018 2018
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 1 2015 2015
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 1 2018 2018