Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:SERPING1_gene
|
| gptkbp:associatedWith |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:canBe |
missense mutation
nonsense mutation frameshift mutation splice site mutation |
| gptkbp:cause |
gptkb:C1_inhibitor_deficiency
recurrent angioedema attacks |
| gptkbp:detects |
blood sample
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1986
|
| https://www.w3.org/2000/01/rdf-schema#label |
SERPING1 gene mutation
|
| gptkbp:impact |
complement system regulation
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:prevalence |
rare
|
| gptkbp:bfsParent |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:bfsLayer |
6
|