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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2013 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2013 2019
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 11 2013 2013
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 2013 2013
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement
phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 2 2013 2013
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.010 None 1.000 1 2013 2013
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2014 2014
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.030 None 1.000 3 2016 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.110 None 1.000 2 1 2016 2019
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 6 0.010 None 1.000 1 2016 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2016 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2016 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2016 2016
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease Nervous System Diseases Disease or Syndrome 122 79 0.100 None 1.000 12 2017 2019
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.100 None 0.909 11 2017 2020
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.100 None 0.900 10 2017 2019
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.060 None 1.000 6 2017 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.050 None 0.800 5 2017 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 4 2 2017 2019
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.040 None 0.750 4 2017 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.040 None 0.750 4 2017 2018
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.040 None 1.000 4 2017 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.020 None 1.000 2 2017 2019
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 23 13 0.020 None 1.000 2 2017 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2017 2018