Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:FANCN
|
| gptkbp:associatedWith |
increased cancer risk
bone marrow failure developmental abnormalities |
| gptkbp:category |
hereditary cancer syndrome
DNA repair disorder |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2007
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fanconi anemia type N
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:PALB2_gene
|
| gptkbp:OMIM |
610832
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Fanconi_anemia
gptkb:PALB2_protein |
| gptkbp:bfsParent |
gptkb:PALB2
|
| gptkbp:bfsLayer |
7
|