Fanconi anemia, complementation group A
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
gptkb:FANCA
|
| gptkbp:associatedWith |
gptkb:FANCA_gene
gptkb:acute_myeloid_leukemia |
| gptkbp:diagnosedBy |
chromosome breakage test
|
| gptkbp:discoveredIn |
1992
|
| gptkbp:function |
DNA repair
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:16q24.3
|
| gptkbp:mutationAssociatedWith |
loss of function
|
| gptkbp:OMIM |
227650
|
| gptkbp:partOf |
gptkb:Fanconi_anemia
|
| gptkbp:prevalence |
most common Fanconi anemia subtype
|
| gptkbp:product |
gptkb:FANCA_protein
|
| gptkbp:symptom |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:treatment |
blood transfusion
androgen therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Fanconi_anemia_group_A_protein
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia, complementation group A
|