Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:Liddle_syndrome
pseudohypoaldosteronism type 1 |
gptkbp:component |
epithelial sodium channel (ENaC)
|
gptkbp:encodes |
Sodium channel epithelial 1 gamma subunit
|
gptkbp:Entrez_Gene_ID |
6340
ENSG00000184182 |
gptkbp:expressedIn |
gptkb:cancer
gptkb:kidney colon salivary gland |
gptkbp:function |
regulation of blood pressure
sodium ion transport |
gptkbp:HGNC_ID |
HGNC:10599
|
https://www.w3.org/2000/01/rdf-schema#label |
SCNN1G gene
|
gptkbp:locatedOnChromosome |
gptkb:16p12.2
|
gptkbp:mutationAssociatedWith |
hypertension
salt-sensitive blood pressure |
gptkbp:OMIM |
600228
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
P51170
|
gptkbp:bfsParent |
gptkb:ENaC
|
gptkbp:bfsLayer |
7
|