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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 454 13 0.010 1.000 1 2013 2013
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.010 1 2008 2008
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 284 19 0.010 1.000 1 2008 2008
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp
disease Neoplastic Process 109 9 0.010 1.000 1 2008 2008
Diabetes mellitus autosomal dominant type II (disorder)
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 9 27 0.010 1.000 1 1999 1999
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.010 1.000 1 2010 2010
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Neoplastic Process 110 105 0.010 1 2009 2009
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 31 89 0.010 1.000 1 2013 2013
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1320 7 0.010 < 0.001 1 2005 2005
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.010 1.000 1 2009 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.010 1.000 1 2010 2010
Pyruvate Dehydrogenase Complex Deficiency Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 15 12 0.010 1.000 1 2003 2003
Well Differentiated Pancreatic Endocrine Tumor
disease Neoplastic Process 58 2 0.010 1.000 1 2012 2012
CUI: C0267918
Disease: Chronic cholangitis
Chronic cholangitis
disease Disease or Syndrome 3 0.010 1.000 1 2013 2013
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
group Neoplasms Neoplastic Process 256 6 0.010 1 2009 2009
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 211 28 0.010 1.000 1 2015 2015
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.010 1.000 1 2009 2009
CUI: C0149955
Disease: Annular pancreas
Annular pancreas
disease Digestive System Diseases Congenital Abnormality 6 0.010 1.000 1 2018 2018
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis
disease Disease or Syndrome 85 14 0.010 1.000 1 2008 2008
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Nutritional and Metabolic Diseases Disease or Syndrome 66 21 0.010 1 2005 2005
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 216 30 0.010 1.000 1 2011 2011
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 729 32 0.010 1.000 1 2011 2011
Pancreatic Intraductal Papillary-Mucinous Neoplasm
disease Neoplastic Process 20 1 0.010 1.000 1 2016 2016
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.010 1 2008 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.010 < 0.001 1 2005 2005