EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2012 2012
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 None 1.000 2 2011 2013
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.010 None 1.000 1 2018 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2018 2018
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2020 2020
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2018 2018
CUI: C0752244
Disease: Rathke Cleft Cysts
Rathke Cleft Cysts 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2016 2016
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.010 None 1.000 1 2018 2018
CUI: C4020965
Disease: Cardiac diverticulum
Cardiac diverticulum 		disease Congenital Abnormality 14 0.100 None 0
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.600 strong 1.000 34 2009 2019
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 32 11 0.990 None 1.000 12 9 2008 2019
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 4 0.100 None 1.000 10 2008 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.040 None 1.000 4 2011 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.020 None 1.000 2 2018 2018
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.020 None 1.000 2 2008 2017
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.020 None 1.000 2 2018 2019
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		disease Digestive System Diseases; Infections Disease or Syndrome 451 27 0.020 None 1.000 2 2018 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.020 None 1.000 2 2016 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.020 None 1.000 2 2010 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.020 None 1.000 2 2007 2013
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.020 None 1.000 2 2014 2017
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.020 None 1.000 2 1999 2014
CUI: C0026936
Disease: Mycoplasma Infections
Mycoplasma Infections 		group Infections Disease or Syndrome 188 1 0.020 None 1.000 2 2015 2019
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.020 None 1.000 2 2014 2018
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.020 None 1.000 2 2015 2018