Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:G6PC
|
| gptkbp:associatedWith |
gptkb:Glycogen_Storage_Disease_Type_Ia
|
| gptkbp:discoveredBy |
gptkb:Edgar_von_Gierke
|
| gptkbp:encodes |
glucose-6-phosphatase enzyme
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000131482
2538 |
| gptkbp:expressedIn |
gptkb:kidney
liver intestine |
| gptkbp:fullName |
glucose-6-phosphatase catalytic subunit gene
|
| gptkbp:function |
catalyzes hydrolysis of glucose-6-phosphate to glucose and phosphate
|
| gptkbp:hasClinicalFeature |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:HGNC_ID |
4051
|
| https://www.w3.org/2000/01/rdf-schema#label |
GSD1A
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:17q21
|
| gptkbp:mutationAssociatedWith |
gptkb:von_Gierke_disease
|
| gptkbp:OMIM |
232200
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
gptkb:Rattus_norvegicus |
| gptkbp:RefSeq |
NM_000151
|
| gptkbp:UniProtID |
P35575
|
| gptkbp:bfsParent |
gptkb:G6PC_gene
|
| gptkbp:bfsLayer |
7
|