xeroderma pigmentosum group C

Summary
Synonym
  • XP group C
  • XP3
  • XPC
  • XPCC
  • xeroderma pigmentosum III
Definition
A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25.
Super Class
xeroderma pigmentosum
External Links
Disease Ontology
DOID:0110844
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
847 CAT catalase
1312 COMT catechol-O-methyltransferase
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
4350 MPG N-methylpurine DNA glycosylase
4968 OGG1 8-oxoguanine DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5728 PTEN phosphatase and tensin homolog

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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: August 19, 2024