hereditary nonpolyposis colorectal cancer type 5

Summary
Synonym
  • HNPCC5
Definition
A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.
Super Class
Lynch syndrome
Disease Ontology
DOID:0070272
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2956 MSH6 mutS homolog 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
17688 Msh6 mutS homolog 6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 62 in total
HPO ID HPO Term
HP:0000505 Visual impairment
HP:0000708 Atypical behavior
HP:0000716 Depression
HP:0000737 Irritability
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0001123 Visual field defect
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001260 Dysarthria
Displaying all 2 entries
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024