Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:alleles |
multiple known alleles
|
| gptkbp:associated_with |
gptkb:anemia
increased cancer risk developmental delays solid tumors short stature increased risk of leukemia skin pigmentation changes |
| gptkbp:character_traits |
bone marrow failure
congenital abnormalities hypersensitivity to DNA cross-linking agents |
| gptkbp:clinical_trial |
ongoing clinical trials
important for genetic testing |
| gptkbp:discovery_year |
gptkb:1996
|
| gptkbp:diseases |
gptkb:Fanconi_anemia_type_A
|
| gptkbp:function |
DNA repair
|
| gptkbp:genetic_map_location |
16q24.3
|
| gptkbp:genetic_studies |
available for families
deletions insertions missense mutations nonsense mutations causes Fanconi anemia |
| https://www.w3.org/2000/01/rdf-schema#label |
FANCA
|
| gptkbp:interacts_with |
other Fanconi anemia genes
|
| gptkbp:is_expressed_in |
high in bone marrow
in hematopoietic cells low in other tissues |
| gptkbp:located_in |
chromosome 16
|
| gptkbp:nutritional_value |
FANCA protein
involved in DNA repair complex with other FA proteins with BRCA1 with FANCD2 with RAD51 |
| gptkbp:orthologs |
FANCA in other species
|
| gptkbp:pathway |
DNA cross-link repair
|
| gptkbp:promoter |
gptkb:FANCA
FANCA gene family |
| gptkbp:research |
target for gene therapy
|
| gptkbp:research_areas |
gptkb:biotechnology
molecular biology hematology pediatric oncology translational research gene therapy research genomic medicine cancer genetics clinical genetics |
| gptkbp:research_focus |
gene therapy approaches
|
| gptkbp:type |
tumor suppressor gene
|
| gptkbp:bfsParent |
gptkb:anemia
|
| gptkbp:bfsLayer |
5
|