Details of Disease | DrugMAP

General Information of Disease (ID: DISN7YWO)

Disease Name	DNA repair disease
Synonyms	deficient DNA Repairs; disorder, DNA repair-deficiency; DNA Repairs, deficient; disorders, DNA repair-deficiency; syndrome, chromosome instability; repair, deficient DNA; chromosome instability syndromes; deficient DNA repair; syndromes, chromosome instability; DNA repair-deficiency disorder; DNA repair deficiency disorders; Repairs, deficient DNA; DNA repair, deficient; DNA repair-deficiencies; chromosome instability syndrome; DNA repair deficiency; DNA repair-deficiency; deficiency of DNA repair; DNA repair disorder; disorder of DNA repair
Definition	A disease that has its basis in the disruption of DNA repair.
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISWD40R: Disease DISN7YWO: DNA repair disease
Disease Identifiers	MONDO ID MONDO_0021190 MESH ID D049914 UMLS CUI C0268134 MedGen ID 82774 SNOMED CT ID 28965003

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
PNKP	TTHR3IE	Strong	Biomarker	[1]
WRN	TT2H5WQ	Strong	Biomarker	[2]
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References

1	Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31.
2	Reduction of Werner Syndrome Protein Enhances G:C ?A:T Transition by O(6)-Methylguanine in Human Cells.Chem Res Toxicol. 2018 May 21;31(5):319-324. doi: 10.1021/acs.chemrestox.8b00009. Epub 2018 Apr 12.