Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
Desmin gene
|
| gptkbp:associatedWith |
gptkb:desmin-related_myopathy
cardiomyopathy |
| gptkbp:discoveredIn |
1986
|
| gptkbp:encodes |
gptkb:desmin
|
| gptkbp:Entrez_Gene_ID |
1674
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
structural protein in muscle
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:2740
|
| https://www.w3.org/2000/01/rdf-schema#label |
DES gene
|
| gptkbp:locatedOnChromosome |
2q35
|
| gptkbp:mutationAssociatedWith |
muscular dystrophy
|
| gptkbp:OMIM |
125660
|
| gptkbp:orthologInMouse |
gptkb:Des
|
| gptkbp:product |
desmin protein
|
| gptkbp:symbol |
gptkb:DES
|
| gptkbp:UniProtID |
P17661
|
| gptkbp:bfsParent |
gptkb:desmin
|
| gptkbp:bfsLayer |
6
|