Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:VW
F8VWF VWD |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:von_Willebrand_disease
thrombotic thrombocytopenic purpura |
| gptkbp:discoveredBy |
Sadler JE
|
| gptkbp:discoveredIn |
1985
|
| gptkbp:encodes |
von Willebrand factor protein
|
| gptkbp:Entrez_Gene_ID |
7450
ENSG00000110799 |
| gptkbp:expressedIn |
gptkb:megakaryocytes
endothelial cells |
| gptkbp:fullName |
von Willebrand factor gene
|
| gptkbp:function |
carrier protein for coagulation factor VIII
mediates platelet adhesion to sites of vascular injury |
| gptkbp:HGNC_ID |
HGNC:12726
|
| https://www.w3.org/2000/01/rdf-schema#label |
VWF gene
|
| gptkbp:length |
178 kb
|
| gptkbp:locatedOnChromosome |
gptkb:12p13.31
12 |
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift splice site |
| gptkbp:numberOfExons |
52
|
| gptkbp:OMIM |
613160
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Vwf
|
| gptkbp:product |
gptkb:VWF
|
| gptkbp:UniProtID |
P04275
|
| gptkbp:bfsParent |
gptkb:Von_Willebrand_factor
|
| gptkbp:bfsLayer |
6
|