Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:X-linked_myotubular_myopathy
|
| gptkbp:discoveredBy |
Laporte et al.
|
| gptkbp:encodes |
gptkb:myotubularin
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000102543
4534 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
phosphatidylinositol 3-phosphatase activity
|
| gptkbp:HGNC_ID |
7536
|
| https://www.w3.org/2000/01/rdf-schema#label |
MTM1
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
muscle weakness
|
| gptkbp:OMIM |
300415
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Mtm1
|
| gptkbp:proteinFamily |
gptkb:myotubularin_family
|
| gptkbp:UniProtID |
gptkb:O00623
|
| gptkbp:bfsParent |
gptkb:Xq28
|
| gptkbp:bfsLayer |
6
|