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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.842 19 3 2000 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 2005 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.090 None 1.000 9 2 2002 2018
CUI: C4310620
Disease: Yao syndrome
Yao syndrome
disease Disease or Syndrome 5 3 0.670 None 1.000 8 3 2011 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
disease Disease or Syndrome 81 10 0.070 None 1.000 7 2003 2019
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder
group Disease or Syndrome 26 1 0.050 None 1.000 5 1 2001 2020
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.330 strong 1.000 4 1985 2019
CUI: C0521173
Disease: Granulomatosis
Granulomatosis
disease Disease or Syndrome 14 1 0.030 None 1.000 3 2002 2018
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
phenotype Sign or Symptom 42 2 0.020 None 0.500 2 2004 2006
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.020 None 1.000 2 2004 2010
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.020 None 1.000 2 2 2010 2015
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.020 None 1.000 2 1 2006 2012
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.020 None 0.500 2 2004 2012
CUI: C3843756
Disease: Ulcerative colitis or Crohn's
Ulcerative colitis or Crohn's
disease Disease or Syndrome 15 1 0.020 None < 0.001 2 2006 2014
CUI: C0086447
Disease: Ileal Pouches
Ileal Pouches
disease Acquired Abnormality 13 0.010 None 1.000 1 2010 2010
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.010 None 1.000 1 2015 2015
CUI: C0282667
Disease: Infant, Very Low Birth Weight
Infant, Very Low Birth Weight
disease Disease or Syndrome 26 1 0.010 None 1.000 1 2016 2016
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2012 2012
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2012 2012
CUI: C0740903
Disease: allergic symptom
allergic symptom
phenotype Sign or Symptom 37 2 0.010 None 1.000 1 2009 2009
CUI: C0742006
Disease: Catheter infection
Catheter infection
disease Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency
disease Disease or Syndrome 85 1 0.010 None 1.000 1 2017 2017
CUI: C0854706
Disease: Neonatal infection
Neonatal infection
disease Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C0860040
Disease: BCG infection
BCG infection
disease Disease or Syndrome 37 0.010 None 1.000 1 2011 2011
CUI: C0947961
Disease: Atopic disorders
Atopic disorders
group Disease or Syndrome 29 2 0.010 None < 0.001 1 2005 2005