Fanconi anemia complementation group D2

Summary
Synonym
  • FA4
  • FAD2
  • FANCD2
  • Fanconi pancytopenia type 4
Definition
A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.
Super Class
Fanconi anemia autosomal recessive disease
External Links
Disease Ontology
DOID:0111083
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2523 FUT1 fucosyltransferase 1 (H blood group)
4913 NTHL1 nth like DNA glycosylase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P19526 Galactoside alpha-(1,2)-fucosyltransferase 1

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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