Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
embryonic myosin heavy chain
|
| gptkbp:associatedWith |
gptkb:Freeman-Sheldon_syndrome
Sheldon-Hall syndrome distal arthrogryposis type 2A |
| gptkbp:discoveredBy |
genetic research
|
| gptkbp:encodes |
myosin-3 protein
|
| gptkbp:Entrez_Gene_ID |
4620
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:fullName |
myosin heavy chain 3
|
| gptkbp:function |
muscle contraction
|
| gptkbp:HGNC_ID |
7520
|
| https://www.w3.org/2000/01/rdf-schema#label |
MYH3 gene
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
17p13.1 |
| gptkbp:mutationAssociatedWith |
congenital contractures
|
| gptkbp:OMIM |
160720
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
myosin heavy chain family
|
| gptkbp:UniProtID |
P11055
|
| gptkbp:bfsParent |
gptkb:Freeman-Sheldon_syndrome
|
| gptkbp:bfsLayer |
7
|