# mismatch repair cancer syndrome

> genetic disease

**Wikidata**: [Q736633](https://www.wikidata.org/wiki/Q736633)  
**Source**: https://4ort.xyz/entity/mismatch-repair-cancer-syndrome-q736633


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. UniProt
4. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/b7d02927-ac93-4a43-a86d-01cd381f4e9f--2018-10-09T14:57:26)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7d02927-ac93-4a43-a86d-01cd381f4e9f-2018-10-09T145726.378Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116062/Orphanet_252202)
8. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08--2018-10-09T14:44:00)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08-2018-10-09T144400.302Z)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000095002/Orphanet_252202)
12. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df--2018-10-09T15:06:23)
13. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df-2018-10-09T150623.105Z)
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000076242/Orphanet_99817)
15. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/38bc9d1d-a436-4f21-9952-bd5e7790a797--2018-10-09T15:03:18)
16. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38bc9d1d-a436-4f21-9952-bd5e7790a797-2018-10-09T150318.285Z)
17. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122512/Orphanet_252202)
18. UMLS 2023