Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
dysfibrinogenemia
congenital afibrinogenemia hereditary fibrinogen deficiency |
gptkbp:component |
gptkb:fibrinogen
|
gptkbp:encodes |
fibrinogen alpha chain
|
gptkbp:Entrez_Gene_ID |
2243
ENSG00000171560 |
gptkbp:expressedIn |
liver
|
gptkbp:function |
blood coagulation
|
gptkbp:hasTranscriptVariant |
multiple splice variants
|
gptkbp:HGNC_ID |
HGNC:3666
|
https://www.w3.org/2000/01/rdf-schema#label |
FGA gene
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_4
4q28 |
gptkbp:mutationAssociatedWith |
fibrinogen storage disease
|
gptkbp:OMIM |
134820
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Fga
|
gptkbp:product |
fibrinogen alpha chain
|
gptkbp:UniProtID |
gptkb:P02671
|
gptkbp:bfsParent |
gptkb:fibrinogen
|
gptkbp:bfsLayer |
7
|