Fanconi Anemia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (Human Disease Ontology, DOID_13636)
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Genes

19 genes associated with the Fanconi Anemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1
BLM Bloom syndrome, RecQ helicase-like
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
PALB2 partner and localizer of BRCA2
RAD51 RAD51 recombinase
SLX4 SLX4 structure-specific endonuclease subunit
TERC telomerase RNA component
TP53 tumor protein p53