Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:C1_esterase_inhibitor
C1NH |
| gptkbp:associatedWith |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:encodes |
C1-inhibitor protein
|
| gptkbp:Entrez_Gene_ID |
710
ENSG00000149131 |
| gptkbp:expressedIn |
liver
|
| gptkbp:function |
regulation of complement system
inhibition of serine proteases |
| gptkbp:HGNC_ID |
HGNC:8941
|
| https://www.w3.org/2000/01/rdf-schema#label |
SERPING1 gene
|
| gptkbp:locatedOnChromosome |
chromosome 11
11q12-q13.1 |
| gptkbp:mutationAssociatedWith |
deficiency leads to hereditary angioedema
|
| gptkbp:OMIM |
606860
|
| gptkbp:orthologInMouse |
Serping1
|
| gptkbp:product |
gptkb:C1-inhibitor
|
| gptkbp:proteinFamily |
serpin family
|
| gptkbp:RefSeq |
NM_000062
|
| gptkbp:UniProtID |
P05155
|
| gptkbp:bfsParent |
gptkb:SERPING1_gene_mutation
|
| gptkbp:bfsLayer |
7
|