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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2011 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 1.000 4 2014 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.030 None 1.000 3 2010 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2009 2018
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 104 12 0.030 None 1.000 3 2014 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2014 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2009 2015
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2009 2011
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: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
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: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 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: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2009 2009
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		disease Neoplastic Process 73 5 0.010 None 1.000 1 2014 2014
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: C0796663
Disease: Childhood Testicular Germ Cell Tumor
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: 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
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2003 2003
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2003 2003
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		disease Neoplasms Neoplastic Process 274 10 0.010 None 1.000 1 2015 2015
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
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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2003 2003
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2014 2014