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: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 19 0.300 None 0
B lymphoblastic leukemia lymphoma, no ICD-O subtype
disease Neoplastic Process 2 2 0.100 None 0 1
Neoplasm of uncertain or unknown behavior of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 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
Congenital hypertrophy of retinal pigment epithelium
disease Congenital Abnormality 5 3 0.100 None 0
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis
disease Digestive System Diseases Disease or Syndrome 49 3 0.100 None 0 1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
disease Neoplasms Neoplastic Process 24 14 0.400 None 0 6
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.100 None 0 1
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0034887
Disease: Rectal polyp
Rectal polyp
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Neoplastic Process 13 0.100 None 0
Increased level of L-fucose in urine
phenotype Finding 14 0.100 None 0
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
phenotype Finding 1 1 0.100 None 0 1
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C3842001
Disease: Adult only
Adult only
phenotype Finding 6 0.300 strong 0
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 1.000 123 83 2001 2017
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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.500 strong 0.947 132 20 2002 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.962 79 7 2002 2019
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: 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