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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.080 None 1.000 8 2014 2019
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		disease Disease or Syndrome 2 5 0.720 None 1.000 3 3 1999 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2013 2020
CUI: C0231230
Disease: Fatigability
Fatigability 		phenotype Sign or Symptom 29 4 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2008 2008
CUI: C1313952
Disease: Respiration intermittent
Respiration intermittent 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2017 2017
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 43 0.010 None 1.000 1 2017 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2014 2014
CUI: C1609524
Disease: ADHF
ADHF 		disease Disease or Syndrome 46 0.010 None 1.000 1 2018 2018
CUI: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4 		disease Disease or Syndrome 1 3 0.600 None 1.000 1 3 2015 2015
CUI: C4523967
Disease: Fracture infection
Fracture infection 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea 		disease Disease or Syndrome 17 3 0.010 None 1.000 1 2017 2017
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		phenotype Finding 11 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 0
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head 		phenotype Finding 3 2 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2013 2013
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.060 None 0.833 6 2016 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.050 None 0.800 5 2017 2019