Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
athletic performance
alpha-actinin-3 deficiency muscle performance |
| gptkbp:chromosomeArm |
q
|
| gptkbp:discoveredBy |
Kathryn North
|
| gptkbp:encodes |
alpha-actinin-3
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143632
89 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:gene |
gptkb:ACTN3
|
| gptkbp:hasPolymorphism |
R577X
|
| gptkbp:HGNC_ID |
HGNC:164
|
| gptkbp:locatedOnChromosome |
7
q22.1 |
| gptkbp:location |
7q22.1
|
| gptkbp:OMIM |
102574
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:relatedTo |
fast-twitch muscle fibers
|
| gptkbp:UniProtID |
Q08043
|
| gptkbp:bfsParent |
gptkb:alpha-actinin
|
| gptkbp:bfsLayer |
9
|
| http://www.w3.org/2000/01/rdf-schema#label |
102574 (ACTN3)
|