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 1.000 23 2010 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.944 18 2010 2019
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.030 None 1.000 3 2013 2016
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.020 None 1.000 2 2018 2019
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 2015 2015
CUI: C0699753
Disease: Cancer Relapse
Cancer Relapse
disease Neoplastic Process 48 0.010 None 1.000 1 2019 2019
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2018 2018
CUI: C1112474
Disease: Small cell carcinoma of esophagus
Small cell carcinoma of esophagus
disease Neoplastic Process 8 5 0.010 None 1.000 1 2014 2014
CUI: C1142339
Disease: Intestinal adenoma
Intestinal adenoma
disease Neoplastic Process 23 0.010 None 1.000 1 2017 2017
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2013 2013
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 0.500 2 2015 2019
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 2018 2018
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.010 None 1.000 1 2011 2011
Steroid Sulfatase Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.010 None 1.000 1 2011 2011
Necrotizing enterocolitis in fetus OR newborn
disease Digestive System Diseases Disease or Syndrome 210 26 0.040 None 1.000 4 2017 2020
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
disease Digestive System Diseases Disease or Syndrome 158 108 0.020 None 1.000 2 2013 2019
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis
disease Digestive System Diseases Disease or Syndrome 103 7 0.020 None 1.000 2 2017 2018
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder
phenotype Digestive System Diseases Disease or Syndrome 346 0.020 None 1.000 2 2018 2019
CUI: C0017152
Disease: Gastritis
Gastritis
disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2013 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2019 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2019 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 1.000 46 2010 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.400 None 1.000 18 1 2009 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.100 None 1.000 16 1 2010 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.100 None 1.000 16 2012 2019