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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.800 definitive 0.954 390 16 2003 2020
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.610 definitive 1.000 10 2003 2018
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 43 5 0.600 limited 0.980 49 1 2003 2019
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.600 None 0.958 24 2003 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.500 None 1.000 2 2007 2014
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.490 None 1.000 9 6 2007 2017
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 42 9 0.400 None 1.000 41 2 2004 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.400 None 0.974 39 1995 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.400 None 0.968 31 1995 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.360 None 1.000 7 2001 2015
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.350 None 1.000 5 1998 2011
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.340 None 1.000 5 2001 2015
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.340 None 1.000 5 2001 2015
CUI: C0206142
Disease: Eosinophilic leukemia
Eosinophilic leukemia 		disease Hemic and Lymphatic Diseases Neoplastic Process 18 2 0.330 None 1.000 5 2 2004 2019
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.310 None 1.000 2 2008 2012
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome 89 8 0.310 None 1.000 1 2013 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.310 None 1.000 1 2000 2000
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome; Congenital Abnormality 46 2 0.310 None 1.000 1 2013 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.310 None 1.000 1 2010 2010
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 556 13 0.300 None 1.000 2 2011 2015
CUI: C0206143
Disease: Loeffler's Endocarditis
Loeffler's Endocarditis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 2 2006 2017
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.300 None 1.000 2 2011 2015
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		phenotype Cardiovascular Diseases Pathologic Function 113 0.300 None 1.000 1 2017 2017
CUI: C0035238
Disease: Congenital abnormality of respiratory system
Congenital abnormality of respiratory system 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 3 0.300 None 1.000 1 2000 2000
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.300 None 1.000 1 2008 2008