chromosome 9 open reading frame 72
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
C9ORF72
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:discoveredBy |
2011
|
| gptkbp:Entrez_Gene_ID |
203228
ENSG00000147894 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
unknown
|
| gptkbp:gene |
gptkb:C9orf72
|
| gptkbp:has_repeat_expansion_mutation |
GGGGCC hexanucleotide repeat
|
| gptkbp:HGNC_ID |
28232
|
| https://www.w3.org/2000/01/rdf-schema#label |
chromosome 9 open reading frame 72
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
hexanucleotide repeat expansion
|
| gptkbp:OMIM |
614260
|
| gptkbp:orthologInMouse |
3110043O21Rik
|
| gptkbp:product |
gptkb:C9orf72_protein
|
| gptkbp:bfsParent |
gptkb:C9orf72_gene
|
| gptkbp:bfsLayer |
7
|