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: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.100 None 0.973 75 1996 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 20 7 1968 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 15 1 2006 2019
CUI: C1959635
Disease: Parvovirus B19 (disease)
Parvovirus B19 (disease) 		disease Disease or Syndrome 59 0.100 None 1.000 10 1995 2017
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.090 None 1.000 9 2003 2017
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 7 14 2001 2008
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 6 5 2001 2009
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.060 None 1.000 6 1 2006 2017
CUI: C2748361
Disease: H5N1 influenza
H5N1 influenza 		disease Disease or Syndrome 31 1 0.060 None 1.000 6 2004 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 5 9 2004 2018
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.150 None 1.000 5 11 2002 2015
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.040 None 1.000 4 2005 2016
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 1.000 4 5 2002 2009
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		disease Acquired Abnormality 12 11 0.100 None 1.000 4 1 2002 2009
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 1.000 4 1 2001 2012
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 4 1 2004 2006
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		phenotype Finding 3 3 0.100 None 1.000 3 2 2005 2018
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.030 None 1.000 3 2008 2016
CUI: C3264382
Disease: Swine influenza virus (viruses that normally cause infections in pigs)
Swine influenza virus (viruses that normally cause infections in pigs) 		disease Disease or Syndrome 12 0.030 None 1.000 3 2005 2019
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 24 7 0.100 None 1.000 2 1 2001 2005
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.020 None 1.000 2 2007 2012
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer 		disease Neoplastic Process 26 0.020 None 1.000 2 2018 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2011 2014
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2017 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 2 2009 2009