|
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
|
|
gptkbp:locatedOnChromosome
|
14
14q11.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb: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:ACMG_SF_v3.0
gptkb:P35555
gptkb:Myosin_heavy_chain
gptkb:TBX5
gptkb:Hypertrophic_cardiomyopathy
gptkb:myosin_heavy_chain_7
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MYH7
|