Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:central_core_disease
gptkb:multiminicore_disease malignant hyperthermia susceptibility |
| gptkbp:encodes |
ryanodine receptor 1 protein
|
| gptkbp:Entrez_Gene_ID |
6261
ENSG00000196218 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:fullName |
gptkb:ryanodine_receptor_1
|
| gptkbp:function |
calcium release channel in skeletal muscle
|
| gptkbp:HGNC_ID |
10483
|
| https://www.w3.org/2000/01/rdf-schema#label |
RYR1
|
| gptkbp:locatedOnChromosome |
19q13.2
|
| gptkbp:mutationAssociatedWith |
muscle weakness
susceptibility to anesthesia-induced complications |
| gptkbp:OMIM |
180901
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Ryr1
|
| gptkbp:proteinFamily |
gptkb:ryanodine_receptor_family
|
| gptkbp:UniProtID |
P21817
|
| gptkbp:bfsParent |
gptkb:Porcine_Stress_Syndrome
|
| gptkbp:bfsLayer |
5
|