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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
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
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: C3842001
Disease: Adult only
Adult only
phenotype Finding 6 0.300 strong 0
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 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
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
phenotype Finding 1 1 0.100 None 0 1
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
Increased level of L-fucose in urine
phenotype Finding 14 0.100 None 0
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: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.100 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: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.010 None 1.000 1 2004 2004
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2004 2004
CUI: C0018081
Disease: Gonorrhea
Gonorrhea
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 261 7 0.010 None 1.000 1 2004 2004
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases
group Digestive System Diseases Disease or Syndrome 144 14 0.010 None 1.000 1 2005 2005
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
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 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: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.010 None 1.000 1 2005 2005