Fanconi anemia complementation group D1

Summary
Synonym
  • FAD1
  • FANCD1
Definition
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.
Super Class
Fanconi anemia autosomal recessive disease
Disease Ontology
DOID:0111089
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
675 BRCA2 BRCA2 DNA repair associated
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51587 Breast cancer type 2 susceptibility protein

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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: April 7, 2025