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.
Autosomal dominant tubulointerstitial kidney disease
disease Disease or Syndrome 13 3 0.010 None 1.000 1 2002 2002
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2017 2017
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2017 2017
CUI: C0265110
Disease: Cerebral Vasospasm
Cerebral Vasospasm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 2012 2012
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None < 0.001 1 2019 2019
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2009 2009
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2017 2017
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 11 0.010 None 1.000 1 2017 2017
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.010 None 1.000 1 2017 2017
Cyclical vomiting syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 4 0.010 None < 0.001 1 2019 2019
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2017 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2019 2019
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 2020 2020
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C0751003
Disease: Brain Aneurysm
Brain Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 2009 2009
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.010 None 1.000 1 2018 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2020 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2018 2018
CUI: C0856486
Disease: Circadian dysrhythmia
Circadian dysrhythmia
disease Disease or Syndrome 2 0.010 None 1.000 1 2020 2020