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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 1 2011 2018
CUI: C0458960
Disease: Peripheral neuropathic pain
Peripheral neuropathic pain
phenotype Sign or Symptom 24 0.030 None 1.000 3 2018 2019
CUI: C0549386
Disease: Sensation of warmth
Sensation of warmth
phenotype Sign or Symptom 4 0.020 None 1.000 2 2018 2019
CUI: C4552486
Disease: Refractory chronic cough
Refractory chronic cough
phenotype Sign or Symptom 2 0.020 None 1.000 2 2014 2017
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2017 2017
CUI: C0221500
Disease: Effects of heat
Effects of heat
phenotype Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2016 2016
CUI: C0429219
Disease: Gastrointestinal sensation
Gastrointestinal sensation
phenotype Sign or Symptom 1 0.010 None 1.000 1 2010 2010
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx)
disease Disease or Syndrome 94 5 0.010 None 1.000 1 2016 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2019 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 1 2013 2013
CUI: C0740432
Disease: Stomach fullness
Stomach fullness
phenotype Sign or Symptom 3 0.010 None 1.000 1 2016 2016
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
phenotype Sign or Symptom 17 3 0.010 None 1.000 1 2010 2010
CUI: C0746668
Disease: muscle pain chronic
muscle pain chronic
phenotype Sign or Symptom 2 0.010 None 1.000 1 2019 2019
CUI: C0857493
Disease: Upper gastrointestinal symptoms
Upper gastrointestinal symptoms
disease Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C0858600
Disease: Taste sweet
Taste sweet
phenotype Sign or Symptom 41 3 0.010 None 1.000 1 2008 2008
CUI: C0877430
Disease: Asthma chronic
Asthma chronic
disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018
CUI: C1096717
Disease: Pain during injection
Pain during injection
phenotype Sign or Symptom 3 0.010 None 1.000 1 2010 2010
Diarrhoea predominant irritable bowel syndrome
disease Disease or Syndrome 57 8 0.010 None 1.000 1 2016 2016
CUI: C1707516
Disease: Corneal Sensitivity
Corneal Sensitivity
phenotype Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.010 None < 0.001 1 2016 2016
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease
disease Disease or Syndrome 17 0.010 None 1.000 1 2010 2010
Calcineurin inhibitor induced pain syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C2712871
Disease: Gout attack
Gout attack
disease Disease or Syndrome 4 0.010 None 1.000 1 2020 2020