Details of Disease | DrugMAP

General Information of Disease (ID: DIS1D86R)

Disease Name	Fanconi anemia complementation group T
Synonyms	Fanconi anemia, complementation group T; Fanconi anemia complementation group type T; FANCT; UBE2T Fanconi anaemia; Fanconi Anemia, complementation group type T; Fanconi anaemia complementation group type T; Fanconi anemia caused by mutation in UBE2T; UBE2T Fanconi anemia; Fanconi anaemia caused by mutation in UBE2T
Definition	Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.
Disease Hierarchy	DISGW6Q8: Fanconi's anemia DIS1D86R: Fanconi anemia complementation group T
Disease Identifiers	MONDO ID MONDO_0014638 UMLS CUI C4084840 OMIM ID 616435 MedGen ID 896157

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
UBE2T	OTPDJDBA	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UBE2T	TT0A1R8	Limited	Altered Expression	[2]
UBE2T	TT0A1R8	Strong	Autosomal recessive	[1]
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References

1	Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. Am J Hum Genet. 2015 Jun 4;96(6):1001-7. doi: 10.1016/j.ajhg.2015.04.022.
2	Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination.Nucleic Acids Res. 2019 Apr 23;47(7):3503-3520. doi: 10.1093/nar/gkz026.