Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
EDMD gene
STA gene |
| gptkbp:associatedWith |
gptkb:Emery-Dreifuss_muscular_dystrophy
|
| gptkbp:discoveredBy |
Bione et al.
|
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
emerin
|
| gptkbp:Entrez_Gene_ID |
2010
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:function |
codes for a nuclear envelope protein
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
3346
|
| https://www.w3.org/2000/01/rdf-schema#label |
EMD gene
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
causes X-linked Emery-Dreifuss muscular dystrophy
|
| gptkbp:OMIM |
300384
|
| gptkbp:orthologInMouse |
Emd
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P50402
|
| gptkbp:bfsParent |
gptkb:Emery-Dreifuss_muscular_dystrophy
|
| gptkbp:bfsLayer |
7
|