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MUTYH

mutY DNA glycosylase
2 disorders 1 causative 1 risk factor 1p34.1 gene with protein product
HGNC:7527MonarchNCBI Gene 4595ENSG00000132781UniProt Q9UIF7OMIM 604933

Aliases: MYH.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
MUTYH-Associated Polyposis causative germline loss of function
mechanism: Biallelic Germline MUTYH Base-Excision-Repair Deficiency
Small Intestine Cancer risk factor
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
colorectal cancer MONDO:0005575 AD Disputed
2023-03-24
familial adenomatous polyposis 2 MONDO:0012041 AR Definitive
2022-06-20
familial ovarian cancer MONDO:0016248 AD Disputed
2023-12-20
 no dismech entry
familial ovarian cancer MONDO:0016248 AR Disputed
2023-12-20
 no dismech entry
hereditary breast carcinoma MONDO:0016419 AD Refuted
2023-12-21
 no dismech entry
hereditary breast carcinoma MONDO:0016419 AR Disputed
2023-12-21
 no dismech entry
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.