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: 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: 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: 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
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: 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 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: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2015 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2015 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.010 None 1.000 1 2019 2019
CUI: C0026946
Disease: Mycoses
Mycoses 		group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C0023643
Disease: Lichen disease
Lichen disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2016 2016
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 32 3 0.010 None 1.000 1 2016 2016
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
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2011 2011
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2020 2020
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2018 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2005 2005
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 2015 2015
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: 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2004 2004