MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 0.962 79 7 2002 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1 2008 2009
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2006 2006
CUI: C3544266
Disease: Hepatobiliary cancer
Hepatobiliary cancer 		disease Neoplastic Process 11 1 0.010 None 1.000 1 2016 2016
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		disease Disease or Syndrome 6 8 0.010 None 1.000 1 2014 2014
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.010 None 1.000 1 2004 2004
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		disease Congenital Abnormality 5 3 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
B lymphoblastic leukemia lymphoma, no ICD-O subtype 		disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C3842001
Disease: Adult only
Adult only 		phenotype Finding 6 0.300 strong 0
CUI: C4016911
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4703633
Disease: Increased level of L-fucose in urine
Increased level of L-fucose in urine 		phenotype Finding 14 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2015 2015
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2015 2015
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1 112 0.710 definitive 1.000 138 112 1987 2018
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 0.600 strong 0.927 82 4 2003 2020
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 10 7 0.100 None 0.909 11 2003 2020
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 48 138 0.020 None 1.000 2 2007 2008
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 0.300 None 1.000 1 2005 2005
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 1 2005 2005
CUI: C4296896
Disease: Hyperplastic polyposis syndrome
Hyperplastic polyposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2008 2008
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.100 None 1.000 17 2005 2019
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 0.100 None 1.000 13 2008 2019
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2008 2008
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 4 2013 2013