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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.060 None 0.833 6 2010 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.060 None 1.000 6 2001 2019
CUI: C2748361
Disease: H5N1 influenza
H5N1 influenza 		disease Disease or Syndrome 31 1 0.060 None 1.000 6 2004 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.160 None 1.000 6 2006 2019
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 50 24 0.550 disputed 1.000 6 2003 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.050 None 1.000 5 2005 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.330 None 1.000 5 2004 2019
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 119 6 0.050 None 1.000 5 2009 2017
CUI: C1519680
Disease: Tumor Immunity
Tumor Immunity 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 337 2 0.040 None 1.000 4 2013 2019
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.040 None 1.000 4 2005 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.040 None 0.750 4 2004 2016
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.500 None 1.000 4 2004 2007
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25 0.040 None 1.000 4 2005 2014
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.040 None 1.000 4 2007 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.040 None 1.000 4 2014 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.040 None 1.000 4 2012 2016
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24 0.040 None 1.000 4 2012 2018
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.500 None 1.000 4 2004 2007
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.040 None 1.000 4 1991 2018
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 59 9 0.030 None 1.000 3 1992 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.130 None 1.000 3 2007 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.030 None 1.000 3 2008 2014
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.030 None 1.000 3 2015 2019
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.030 None 1.000 3 2004 2016
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.030 None 1.000 3 2018 2019