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: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.090 None 1.000 9 2001 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2003 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.050 None 1.000 5 2011 2019
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.040 None 1.000 4 2000 2018
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 2 14 2009 2018
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.020 None 1.000 2 2006 2017
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 2014 2017
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.020 None 1.000 2 2014 2017
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 2011 2018
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C0741949
Disease: Cardiovascular Pathology
Cardiovascular Pathology 		disease Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
CUI: C0746556
Disease: metabolic disturbance
metabolic disturbance 		disease Disease or Syndrome 29 4 0.010 None 1.000 1 2018 2018
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 2009 2009
CUI: C1096285
Disease: Arterial fibrosis
Arterial fibrosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2013 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2004 2004
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2013 2013
CUI: C2004489
Disease: Regurgitation
Regurgitation 		phenotype Sign or Symptom 66 0.010 None 1.000 1 2017 2017
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2018 2018
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.010 None 1.000 1 2012 2012
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017