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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 definitive 1.000 43 20 2003 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 14 2009 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 14 1996 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 2005 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2006 2011
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.040 None 1.000 4 2002 2019
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta 		disease Disease or Syndrome 26 0.020 None 1.000 2 2015 2016
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 1998 2006
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 1 2007 2007
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2007 2007
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 2 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0239815
Disease: Hand clenching
Hand clenching 		phenotype Finding 26 9 0.100 None 1.000 1 1 2017 2017
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2000 2000
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 2 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2011 2011
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.010 None 1.000 1 2012 2012
CUI: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1 		disease Disease or Syndrome 5 7 0.010 None 1.000 1 1 2014 2014
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None < 0.001 1 2018 2018
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 1997 1997
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 2018 2018
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast 		phenotype Neoplastic Process 82 3 0.010 None 1.000 1 2003 2003
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2018 2018
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		disease Disease or Syndrome 14 1 0.010 None 1.000 1 2011 2011
CUI: C2004489
Disease: Regurgitation
Regurgitation 		phenotype Sign or Symptom 66 0.010 None 1.000 1 2009 2009