Details of Disease

General Information of Disease (ID: DISGMJXH)

Disease Name Polymerase proofreading-related adenomatous polyposis
Synonyms PPAP; Polymerase proofreading-related adenomatous polyposis
Disease Hierarchy
DISGMTLG: Attenuated familial adenomatous polyposis
DISGMJXH: Polymerase proofreading-related adenomatous polyposis
Disease Identifiers
MONDO ID
MONDO_0018653
MESH ID
C068473
UMLS CUI
C0130294
MedGen ID
51342
Orphanet ID
447877

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POLD1 OTWO4UCJ Supportive Autosomal dominant [1]
POLE OTFM3MMU Supportive Autosomal dominant [1]
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References

1 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23.