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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 21 2005 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 15 2004 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.050 None 1.000 5 2008 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2011 2018
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.030 None 1.000 3 2012 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 2009 2017
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.020 None 1.000 2 2013 2014
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		phenotype Neoplastic Process 64 2 0.020 None 1.000 2 2010 2011
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.020 None 1.000 2 2013 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2015 2015
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava 		disease Congenital Abnormality 2 0.010 None 1.000 1 2020 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2012 2012
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2009 2009
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2009 2009
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		disease Neoplastic Process 18 3 0.010 None 1.000 1 2016 2016
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.010 None 1.000 1 2019 2019
CUI: C0344787
Disease: Complete atrioventricular septal defect
Complete atrioventricular septal defect 		disease Congenital Abnormality 1 0.010 None 1.000 1 2013 2013
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour 		disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2015 2015
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 2009 2009
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2002 2002
CUI: C0795855
Disease: Ring chromosome 15 syndrome
Ring chromosome 15 syndrome 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0862506
Disease: Borderline ovarian tumour
Borderline ovarian tumour 		disease Neoplastic Process 54 0.010 None 1.000 1 2010 2010
CUI: C1328577
Disease: Empty follicle syndrome
Empty follicle syndrome 		disease Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C1333171
Disease: Primary Cutaneous Follicle Center Lymphoma
Primary Cutaneous Follicle Center Lymphoma 		disease Neoplastic Process 19 0.010 None 1.000 1 2008 2008
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017