Fanconi anemia complementation group A

Summary
Synonym
  • FANCA
Definition
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.
Super Class
Fanconi anemia autosomal recessive disease
External Links
Disease Ontology
DOID:0111095
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 24 in total
Gene ID Gene Symbol Description Source
3383 ICAM1 intercellular adhesion molecule 1
4023 LPL lipoprotein lipase
4199 ME1 malic enzyme 1
4360 MRC1 mannose receptor C-type 1
4684 NCAM1 neural cell adhesion molecule 1
5209 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5728 PTEN phosphatase and tensin homolog
6646 SOAT1 sterol O-acyltransferase 1
7412 VCAM1 vascular cell adhesion molecule 1
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q9H5J4 Very long chain fatty acid elongase 6
Q9NQ88 Fructose-2,6-bisphosphatase TIGAR

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024