Details of Disease

General Information of Disease (ID: DISTNINQ)

Disease Name APC-related attenuated familial adenomatous polyposis
Synonyms APC-related AFAP; APC-related attenuated familial polyposis coli; APC-related attenuated familial adenomatous polyposis; APC-related attenuated FAP
Disease Hierarchy
DISM44VR: Familial adenomatous polyposis 1
DISTNINQ: APC-related attenuated familial adenomatous polyposis
Disease Identifiers
MONDO ID
MONDO_0016613
UMLS CUI
C5679615
MedGen ID
1826008
Orphanet ID
247806

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APC OTKV0TIK Supportive Autosomal dominant [1]
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References

1 Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007 May;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x.