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: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.200 None 1.000 1 2009 2009
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.020 None 1.000 2 2011 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.020 None 1.000 2 2011 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2017 2017
Chronic thromboembolic pulmonary hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 76 4 0.010 None 1.000 1 2019 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2018 2018
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 52 22 0.010 None 1.000 1 2017 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2019 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2002 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0398777
Disease: Complement Factor H Deficiency
Complement Factor H Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 5 9 0.010 None 1.000 1 2006 2006
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 2019 2019
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord
disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 60 2 0.200 None 1.000 1 2012 2012
CUI: C0009676
Disease: Confusion
Confusion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 75 5 0.110 None 1.000 1 2016 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2017 2017
Congenital Thrombotic Thrombocytopenic Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 36 66 0.800 None 0.992 127 64 2001 2020
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None < 0.001 1 2017 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2015 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.050 None 1.000 5 3 2010 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2015 2018
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 1 2012 2012
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0 2
CUI: C0151950
Disease: Deep thrombophlebitis
Deep thrombophlebitis
disease Cardiovascular Diseases Disease or Syndrome 16 0.010 None 1.000 1 2016 2016
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
disease Cardiovascular Diseases Disease or Syndrome 230 93 0.040 None 0.750 4 2011 2016
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2018 2018