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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2017 2017
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None 1.000 1 2017 2017
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2017 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2019 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2017 2017
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 		disease Hemic and Lymphatic Diseases Disease or Syndrome 119 5 0.010 None 1.000 1 2020 2020
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.010 None 1.000 1 2019 2019
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2001 2001
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2018 2018
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.010 None 1.000 1 2018 2018
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 185 9 0.010 None 1.000 1 2018 2018
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.010 None 1.000 1 2015 2015
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 0.010 None 1.000 1 2017 2017
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2005 2005
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		disease Digestive System Diseases Disease or Syndrome 59 8 0.010 None 1.000 1 2017 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 452 22 0.010 None 1.000 1 2019 2019
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.010 None 1.000 1 1989 1989
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2000 2000
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2013 2013
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.010 None 1.000 1 2017 2017
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 378 36 0.010 None 1.000 1 2020 2020
CUI: C0036117
Disease: Salmonella infections
Salmonella infections 		group Infections Disease or Syndrome 96 0.010 None 1.000 1 2018 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2015 2015