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: C0267430
Disease: Noninfectious colitis
Noninfectious colitis 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0342970
Disease: Increased oxygen demand
Increased oxygen demand 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0345903
Disease: Anal skin tag
Anal skin tag 		phenotype Skin and Connective Tissue Diseases Anatomical Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C1321275
Disease: Non-specific colitis
Non-specific colitis 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
CUI: C1332259
Disease: Adenocarcinoma of anal canal
Adenocarcinoma of anal canal 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1333110
Disease: Colorectal High Grade Intraepithelial Neoplasia
Colorectal High Grade Intraepithelial Neoplasia 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0849888
Disease: psychological disturbance
psychological disturbance 		disease Mental or Behavioral Dysfunction 2 1 0.010 None 1.000 1 2018 2018
CUI: C1332262
Disease: Anal canal squamous cell carcinoma
Anal canal squamous cell carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 1 0.010 None 1.000 1 2017 2017
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 12 0.730 definitive 1.000 11 12 2003 2018
CUI: C0263888
Disease: Back disorder
Back disorder 		group Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1112574
Disease: Granulomatous ileocolitis
Granulomatous ileocolitis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C1257843
Disease: pseudomembranous colitis
pseudomembranous colitis 		disease Digestive System Diseases; Infections Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C0156173
Disease: Functional diarrhea
Functional diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0238106
Disease: Clostridium difficile colitis
Clostridium difficile colitis 		disease Digestive System Diseases; Infections Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C0031019
Disease: Perianal abscess
Perianal abscess 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 8 0.010 None 1.000 1 2014 2014
CUI: C4073171
Disease: Elevated plasma acylcarnitine levels
Elevated plasma acylcarnitine levels 		phenotype Finding 5 0.100 None 0
CUI: C0751771
Disease: Sleep Bruxism
Sleep Bruxism 		disease Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2018 2018
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 		disease Disease or Syndrome 7 5 0.010 None 1.000 1 2014 2014
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 8 11 0.010 None 1.000 1 2014 2014
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 10 0.010 None 1.000 1 2014 2014
CUI: C1856432
Disease: Dicarboxylic aciduria
Dicarboxylic aciduria 		phenotype Finding 8 0.100 None 0
CUI: C0242490
Disease: Enthesopathy
Enthesopathy 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 11 1 0.020 None 1.000 2 2018 2019
CUI: C2931173
Disease: Pediatric ulcerative colitis
Pediatric ulcerative colitis 		disease Digestive System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0341332
Disease: Indeterminate colitis
Indeterminate colitis 		disease Digestive System Diseases Disease or Syndrome 13 1 0.020 None 1.000 2 2009 2017