Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:LH1
gptkb:lysyl_hydroxylase_1 |
| gptkbp:associatedWith |
gptkb:Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1
|
| gptkbp:encodes |
gptkb:procollagen-lysine,2-oxoglutarate_5-dioxygenase_1
|
| gptkbp:Entrez_Gene_ID |
5350
ENSG00000123500 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
lysyl hydroxylation of collagen
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:9080
|
| gptkbp:locatedOnChromosome |
gptkb:1p36.22
chromosome 1 |
| gptkbp:mutationAssociatedWith |
defective collagen cross-linking
|
| gptkbp:OMIM |
153454
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Plod1
|
| gptkbp:product |
gptkb:PLOD1_protein
|
| gptkbp:UniProtID |
Q02809
|
| http://www.w3.org/2000/01/rdf-schema#label |
PLOD1 gene
|