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: 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 0.100 None 0.976 42 1999 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.080 None 0.875 8 2002 2018
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		disease Disease or Syndrome 10 4 0.050 None 0.800 5 3 2003 2016
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.040 None 1.000 4 2012 2019
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.020 None 1.000 2 2009 2016
CUI: C4324584
Disease: Periprocedural myocardial infarction
Periprocedural myocardial infarction 		disease Disease or Syndrome 6 1 0.020 None 1.000 2 2012 2016
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		disease Disease or Syndrome 48 35 0.020 None 1.000 2 2019 2019
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 2014 2016
CUI: C0021296
Disease: Infant, Small for Gestational Age
Infant, Small for Gestational Age 		phenotype Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0042693
Disease: Violence
Violence 		phenotype Mental or Behavioral Dysfunction 70 6 0.010 None 1.000 1 2015 2015
CUI: C0149821
Disease: ACUTE ALCOHOL WITHDRAWAL
ACUTE ALCOHOL WITHDRAWAL 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2010 2010
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2013 2013
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2016 2016
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 1 1 2016 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2016 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1536221
Disease: Non ST segment elevation myocardial infarction
Non ST segment elevation myocardial infarction 		disease Disease or Syndrome 18 0.010 None 1.000 1 2010 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2014 2014
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 2011 2011
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease 		disease Disease or Syndrome 17 0.010 None 1.000 1 2016 2016
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2013 2013
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2019 2019
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2011 2011