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: C4725671
Disease: High-Risk Neuroblastoma
High-Risk Neuroblastoma 		disease Neoplasms Neoplastic Process 99 4 0.010 None 1.000 1 2018 2018
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids 		disease Infections Disease or Syndrome 124 4 0.010 None 1.000 1 2013 2013
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2013 2013
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 77 32 0.010 None 1.000 1 1997 1997
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2013 2013
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2013 2013
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.010 None 1.000 1 1 2018 2018
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.010 None 1.000 1 2006 2006
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 1997 1997
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 30 22 0.010 None 1.000 1 2017 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.010 None 1.000 1 2013 2013
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.010 None 1.000 1 2006 2006
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 1998 1998
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.010 None 1.000 1 2018 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None < 0.001 1 2009 2009
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2010 2010
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.010 None < 0.001 1 2014 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 1998 1998
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2006 2006
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None < 0.001 1 2014 2014
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2003 2003
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.010 None < 0.001 1 2014 2014
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2014 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2013 2013
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2018 2018