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xeroderma pigmentosum variant type
Summary
- Synonym
-
- XPV
- photosensitivity with defective DNA synthesis
- xeroderma pigmentosum with normal DNA repair rates
- Definition
- A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1.
- Super Class
- xeroderma pigmentosum
External Links
- Disease Ontology
- DOID:0110847
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| 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 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6888 | TALDO1 | transaldolase 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 64132 | XYLT2 | xylosyltransferase 2 |
Related Glycoprotein
