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.
Primary cholangiocarcinoma of intrahepatic biliary tract
disease Neoplasms Neoplastic Process 274 10 0.010 None 1.000 1 2015 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2015 2015
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2015 2015
Fibrolamellar Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2019 2019
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 10 9 0.010 None 1.000 1 2017 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2015 2015
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2017 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 1 2016 2016
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2006 2006
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2009 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 1 2016 2016
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2014 2014
Childhood Langerhans Cell Histiocytosis
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2014 2014
CUI: C1844777
Disease: CONE DYSTROPHY, X-LINKED, 1
CONE DYSTROPHY, X-LINKED, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 1994 1994
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.010 None 1.000 1 2003 2003
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 1 2016 2016
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma
disease Neoplastic Process 73 5 0.010 None 1.000 1 2014 2014
CUI: C0848332
Disease: Spots on skin
Spots on skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2017 2017
Childhood Testicular Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 55 0.010 None 1.000 1 2003 2003
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2011 2011
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2017 2017
CUI: C0026946
Disease: Mycoses
Mycoses
group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2017 2017
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2015 2015