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
Displaying entries 11 - 20 of 22 in total
Gene ID Gene Symbol Description Source
27306 HPGDS hematopoietic prostaglandin D synthase
54575 UGT1A10 UDP glucuronosyltransferase family 1 member A10
54576 UGT1A8 UDP glucuronosyltransferase family 1 member A8
54577 UGT1A7 UDP glucuronosyltransferase family 1 member A7
54578 UGT1A6 UDP glucuronosyltransferase family 1 member A6
54579 UGT1A5 UDP glucuronosyltransferase family 1 member A5
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54659 UGT1A3 UDP glucuronosyltransferase family 1 member A3

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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