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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.962 79 7 2002 2019
CUI: C0334108
Disease: Multiple polyps
Multiple polyps
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 77 32 0.100 None 0.917 48 9 2003 2020
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 0.978 46 2 2002 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.977 44 7 2003 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.975 40 7 2003 2019
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.100 None 1.000 29 3 2002 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.962 26 2 2002 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.100 None 1.000 17 2002 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 0.941 17 2 2001 2019
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: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.100 None 0.867 15 2 2004 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0.909 11 10 2006 2020
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: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.100 None 0.800 10 2004 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.100 None 1.000 10 2004 2012
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: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis
disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0 1
CUI: C1868071
Disease: Adenomatous colonic polyposis
Adenomatous colonic polyposis
phenotype Digestive System Diseases; Neoplasms Finding 13 5 0.100 None 0
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.100 None 0 1
B lymphoblastic leukemia lymphoma, no ICD-O subtype
disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C0034887
Disease: Rectal polyp
Rectal polyp
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 13 0.100 None 0
Congenital hypertrophy of retinal pigment epithelium
disease Congenital Abnormality 5 3 0.100 None 0
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
phenotype Finding 1 1 0.100 None 0 1
Increased level of L-fucose in urine
phenotype Finding 14 0.100 None 0