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: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2016 2016
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma
disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0278714
Disease: stage IV Wilms tumor
stage IV Wilms tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2019 2019
CUI: C0278601
Disease: Inflammatory Breast Carcinoma
Inflammatory Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 0.010 None 1.000 1 2016 2016
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2007 2007
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
Triglyceride storage disease with ichthyosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 8 0.010 None 1.000 1 2012 2012
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 2019 2019
CUI: C0263912
Disease: Rotator cuff syndrome
Rotator cuff syndrome
disease Wounds and Injuries Disease or Syndrome 54 8 0.010 None 1.000 1 2018 2018
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand
disease Musculoskeletal Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 1995 1995
Disseminated eosinophilic collagen disease
disease Skin and Connective Tissue Diseases Disease or Syndrome 14 2 0.010 None < 0.001 1 2009 2009
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.010 None 1.000 1 2017 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None < 0.001 1 2016 2016
CUI: C0241961
Disease: Angiomyolipoma of kidney
Angiomyolipoma of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 36 1 0.010 None 1.000 1 2002 2002
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
disease Neoplasms Neoplastic Process 504 42 0.010 None 1.000 1 2017 2017
Metastatic non-small cell lung cancer
disease Neoplasms Neoplastic Process 106 11 0.010 None 1.000 1 2014 2014
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2003 2003
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental Disorders Mental or Behavioral Dysfunction 376 98 0.010 None 1.000 1 2015 2015
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 2003 2003
CUI: C0340548
Disease: Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis
disease Neoplasms; Cardiovascular Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2007 2007
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 1992 1992
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process 76 14 0.010 None 1.000 1 2018 2018
CUI: C0334280
Disease: Carcinoma, diffuse type
Carcinoma, diffuse type
phenotype Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2010 2010