Details of Disease | DrugMAP

General Information of Disease (ID: DISL2QE9)

Disease Name	Fanconi anemia complementation group F
Synonyms	Fanconi anemia, complementation group F; Fanconi anemia complementation group type F; Fanconi anemia complementation group F; FANCF; Fanconi anaemia complementation group type F; Fanconi Anemia, complementation group type F
Definition	Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.
Disease Hierarchy	DISGW6Q8: Fanconi's anemia DISL2QE9: Fanconi anemia complementation group F
Disease Identifiers	MONDO ID MONDO_0011325 UMLS CUI C3469526 OMIM ID 603467 MedGen ID 854016

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FANCF	TTNZKFJ	Strong	Posttranslational Modification	[1]
FANCF	TTNZKFJ	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FANCF	OT3WA9N1	Definitive	Autosomal recessive	[2]
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References

1	Promoter Hypermethylation of FANCF and Susceptibility and Prognosis of Epithelial Ovarian Cancer.Reprod Sci. 2016 Jan;23(1):24-30. doi: 10.1177/1933719115612136. Epub 2015 Oct 27.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.