Statements (24)
| 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
|
| 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:ENSG00000005339
gptkb:ENSG00000100030 gptkb:ABCA1 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:29
|