Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:CFTD
gptkb:NEM1 gptkb:ACTA |
gptkbp:associatedWith |
Nemaline myopathy 3
Congenital fiber-type disproportion |
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000143632
58 |
gptkbp:gene |
gptkb:ACTA1
gptkb:actin_alpha_1,_skeletal_muscle |
gptkbp:HGNC_ID |
gptkb:HGNC:29
|
https://www.w3.org/2000/01/rdf-schema#label |
HGNC:29
|
gptkbp:locatedOnChromosome |
1
|
gptkbp:locusType |
1q42.13
|
gptkbp:OMIM |
102610
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:product |
Alpha-actin-1
|
gptkbp:proteinFamily |
actins
|
gptkbp:RefSeq |
gptkb:NM_001100.3
|
gptkbp:UniProtID |
gptkb:P68133
|
gptkbp:bfsParent |
gptkb:ABCA1
|
gptkbp:bfsLayer |
7
|