Details of Disease | DrugMAP

General Information of Disease (ID: DISOFNTT)

Disease Name	Obsolete Li-Fraumeni syndrome 2
Synonyms	LFS2; Li-Fraumeni syndrome type 2; CHEK2 Li-Fraumeni syndrome; Li-Fraumeni syndrome caused by mutation in CHEK2; Li-Fraumeni syndrome 2
Definition	OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISOFNTT: Obsolete Li-Fraumeni syndrome 2

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHEK2	TT9ABMF	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHEK2	OT8ZPCNS	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.