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: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 2 2 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2011 2011
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None 1.000 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 2 2019 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2011 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.020 None 1.000 2 2019 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2018 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None 1.000 1 2019 2019
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.010 None 1.000 1 2011 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2019 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.010 None 1.000 1 2018 2018
CUI: C0149756
Disease: Fasciitis, Plantar
Fasciitis, Plantar
disease Musculoskeletal Diseases Disease or Syndrome 2 1 0.100 None 1.000 1 1 2018 2018
CUI: C0158360
Disease: Fibromatosis, Plantar
Fibromatosis, Plantar
disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2020 2020
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.400 None 1.000 1 1 2018 2018
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2019 2019
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.010 None 1.000 1 2018 2018
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018