APC, APC regulator of WNT signaling pathway, 324

N. diseases: 95; N. variants: 596
Source: CURATED ×
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: C0021846
Disease: Intestinal Polyps
Intestinal Polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 5 1 0.490 None 1.000 3 1 1995 2017
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 17 0.300 None 1.000 1 2006 2006
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 332 0.400 None 1.000 11 332 1991 2017
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 16 0.300 None 1.000 11 1994 2017
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.300 None 1.000 1 2016 2016
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 4 2 0.400 None 1.000 1 2014 2014
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 0.320 None 1.000 1 2006 2016
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 35 357 0.370 None 0.875 1 1997 2016
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 6 2 0.300 None 1.000 1 2016 2016
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 55 0.300 None 1.000 1 2014 2014
CUI: C0151857
Disease: Pleocytosis
Pleocytosis 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 1.000 1 2016 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 5 65 0.400 None 1.000 1 1994 2018
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 9 0.310 None 1.000 1 2015 2015
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 9 0.400 None 1.000 1 1995 2018
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 10 0.500 moderate 0.938 0 10 1991 2018
CUI: C1851124
Disease: Desmoid disease, hereditary
Desmoid disease, hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 11 0.640 strong 1.000 0 11 1996 2011
CUI: C2675440
Disease: Desmoid Tumor Caused By Somatic Mutation
Desmoid Tumor Caused By Somatic Mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 1 0.300 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 22 19 0.300 None 1.000 1 2016 2016
CUI: C1706412
Disease: Lipidemias
Lipidemias 		phenotype Nutritional and Metabolic Diseases Finding 17 0.300 None 1.000 1 2007 2007
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		phenotype Neoplasms Finding 3 0.300 None 1.000 1 2003 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.310 None 1.000 2 1994 2007
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 1994 1994
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2 0.300 None 1.000 1 1994 1994
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.310 None 1.000 1 2005 2005
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 1994 1994