Details of Disease

General Information of Disease (ID: DISEKCBN)

Disease Name Familial adenomatous polyposis 3
Synonyms familial adenomatous polyposis type 3; NTHL1-related AFAP; familial adenomatous polyposis 3; NTHL1-related attenuated FAP; FAP3; NTHL1-related attenuated familial adenomatous polyposis
Disease Hierarchy
DISGMTLG: Attenuated familial adenomatous polyposis
DISW53RE: Familial adenomatous polyposis
DISEKCBN: Familial adenomatous polyposis 3
Disease Identifiers
MONDO ID
MONDO_0014630
UMLS CUI
C4225157
OMIM ID
616415
MedGen ID
902388
Orphanet ID
454840

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
NTHL1 OTPQXPT1 Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.