Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:MTPK
gptkb:DM1 myotonin kinase |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:myotonic_dystrophy_type_1
|
| gptkbp:discoveredBy |
Harper et al.
|
| gptkbp:encodes |
myotonin-protein kinase
|
| gptkbp:Entrez_Gene_ID |
1760
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
dystrophia myotonica protein kinase
|
| gptkbp:function |
protein kinase activity
|
| gptkbp:HGNC_ID |
2928
|
| https://www.w3.org/2000/01/rdf-schema#label |
DMPK
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_19
|
| gptkbp:mutationAssociatedWith |
trinucleotide repeat expansion disorder
|
| gptkbp:OMIM |
605377
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q09013
|
| gptkbp:bfsParent |
gptkb:Shanghai_ChemPartner
gptkb:myotonic_dystrophy |
| gptkbp:bfsLayer |
7
|