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xeroderma pigmentosum group D
Summary
- Synonym
-
- XP group D
- XP group H
- XP4
- XP8
- XPD
- XPDC
- XPH
- xeroderma pigmentosum IV
- xeroderma pigmentosum VIII
- Definition
- A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.
- Super Class
- xeroderma pigmentosum
External Links
- Disease Ontology
- DOID:0110845
- Mondo Disease Ontology
- OMIM
- 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 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6888 | TALDO1 | transaldolase 1 | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
Related Glycoprotein
