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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.991 107 2005 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.917 12 2009 2020
Secondary malignant neoplasm of peritoneum
disease Neoplastic Process 58 2 0.080 None 0.750 8 2017 2019
Chronic rhinosinusitis with nasal polyps
disease Neoplastic Process 168 1 0.070 None 1.000 7 2010 2019
CUI: C0239337
Disease: Deformity of limb
Deformity of limb
group Anatomical Abnormality 37 3 0.040 None 1.000 4 2004 2013
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.030 None 1.000 3 2017 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 1998 2013
CUI: C0240602
Disease: opioid use
opioid use
disease Mental or Behavioral Dysfunction 39 5 0.020 None 1.000 2 2019 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.020 None 1.000 2 2014 2017
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.020 None 1.000 2 2005 2014
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.020 None 1.000 2 2015 2017
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis
disease Congenital Abnormality 6 1 0.020 None 1.000 2 2009 2018
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.020 None 1.000 2 2015 2017
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.020 None 1.000 2 2018 2019
CUI: C4540299
Disease: SWEENEY-COX SYNDROME
SWEENEY-COX SYNDROME
disease Disease or Syndrome 2 1 0.420 None 1.000 2 1 2017 2018
CUI: C0004059
Disease: aspirin intolerance
aspirin intolerance
phenotype Sign or Symptom 23 4 0.010 None 1.000 1 2016 2016
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb
phenotype Sign or Symptom 31 2 0.010 None 1.000 1 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C0238790
Disease: bone destruction
bone destruction
disease Disease or Syndrome 234 3 0.010 None 1.000 1 2018 2018
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer
disease Neoplastic Process 65 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: C0424101
Disease: Inattention
Inattention
phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2018 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2013 2013
Midline facial cleft - Tessier cleft 0
disease Congenital Abnormality 8 1 0.010 None 1.000 1 1 2017 2017