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: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 2 1 2016 2019
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia 		disease Neoplastic Process 119 1 0.010 None 1.000 1 2019 2019
CUI: C0856053
Disease: Leukemia secondary
Leukemia secondary 		disease Neoplastic Process 24 4 0.010 None 1.000 1 2002 2002
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		disease Neoplastic Process 65 4 0.010 None 1.000 1 2009 2009
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2020 2020
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2854122
Disease: Acute myeloblastic leukemia with t(8;21)
Acute myeloblastic leukemia with t(8;21) 		disease Neoplastic Process 4 0.010 None 1.000 1 2008 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2018 2018
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.020 None 1.000 2 2013 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.020 None 1.000 2 2013 2019
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.030 None 1.000 3 2013 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.020 None 1.000 2 2013 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2017 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2019 2019
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 3
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.010 None 1.000 1 2012 2012
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.010 None 1.000 1 2012 2012
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 13 2005 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.080 None 1.000 8 1998 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.060 None 1.000 6 1998 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 2002 2018