Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
MHC-beta
beta-cardiac myosin heavy chain |
| gptkbp:associatedWith |
gptkb:dilated_cardiomyopathy
gptkb:Laing_distal_myopathy gptkb:myosin_storage_myopathy hypertrophic cardiomyopathy |
| gptkbp:encodes |
myosin-7
|
| gptkbp:Entrez_Gene_ID |
4625
ENSG00000092054 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
muscle contraction
ATPase activity |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:7577
|
| https://www.w3.org/2000/01/rdf-schema#label |
MYH7
|
| gptkbp:locatedOnChromosome |
14
14q11.2 |
| gptkbp:mutationAssociatedWith |
cardiomyopathy
skeletal muscle disease |
| gptkbp:OMIM |
160760
|
| gptkbp:orthologInMouse |
gptkb:Myh7
|
| gptkbp:product |
gptkb:beta-myosin_heavy_chain
|
| gptkbp:proteinFamily |
myosin heavy chain family
|
| gptkbp:UniProtID |
P12883
|
| gptkbp:bfsParent |
gptkb:Hypertrophic_Cardiomyopathy
|
| gptkbp:bfsLayer |
7
|