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: 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: C0333648
Disease: Abiotrophy
Abiotrophy 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2018 2018
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: 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: C1868072
Disease: Small intestine carcinoid
Small intestine carcinoid 		disease Neoplasms Neoplastic Process 3 1 0.100 None 1.000 1 1 2017 2017
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: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		disease Disease or Syndrome 6 8 0.010 None 1.000 1 2014 2014
CUI: C3842001
Disease: Adult only
Adult only 		phenotype Finding 6 0.300 strong 0
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 20 0.020 None 1.000 2 2005 2010
CUI: C0541912
Disease: Duodenal Cancer
Duodenal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 1 0.010 None 1.000 1 2006 2006
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: 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: C3544266
Disease: Hepatobiliary cancer
Hepatobiliary cancer 		disease Neoplastic Process 11 1 0.010 None 1.000 1 2016 2016
CUI: C0034887
Disease: Rectal polyp
Rectal polyp 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 13 0.100 None 0
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis 		phenotype Digestive System Diseases; Neoplasms Finding 13 5 0.100 None 0
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: 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: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0496905
Disease: Neoplasm of uncertain or unknown behavior of stomach
Neoplasm of uncertain or unknown behavior of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0012242
Disease: Digestive System Disorders
Digestive System Disorders 		group Digestive System Diseases Disease or Syndrome 19 13 0.010 None 1.000 1 2007 2007
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 19 0.300 None 0
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		disease Neoplasms Neoplastic Process 24 14 0.400 None 0 6
CUI: C0206684
Disease: Sebaceous Adenocarcinoma
Sebaceous Adenocarcinoma 		disease Neoplasms Neoplastic Process 41 2 0.010 None 1.000 1 1 2014 2014
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		disease Neoplasms Neoplastic Process 43 5 0.040 None 0.750 4 2004 2006