FANCS-related Fanconi anemia
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Fanconi anemia subtype |
| gptkbp:alsoKnownAs |
Fanconi anemia complementation group S
|
| gptkbp:associatedWith |
gptkb:BRCA1
|
| gptkbp:characterizedBy |
increased cancer risk
bone marrow failure congenital abnormalities |
| gptkbp:firstDescribed |
2015
|
| https://www.w3.org/2000/01/rdf-schema#label |
FANCS-related Fanconi anemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:BRCA1_gene
|
| gptkbp:OMIM |
617883
|
| gptkbp:partOf |
gptkb:Fanconi_anemia_complementation_groups
|
| gptkbp:bfsParent |
gptkb:Fanconi_anemia,_complementation_group_S
|
| gptkbp:bfsLayer |
7
|