Chromosome 9 open reading frame 72
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:discoveredBy |
gptkb:DeJesus-Hernandez_et_al.
|
| gptkbp:discoveredIn |
2011
|
| gptkbp:Entrez_Gene_ID |
203228
ENSG00000147894 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
unknown
|
| gptkbp:hasRepeatExpansion |
GGGGCC hexanucleotide repeat
|
| gptkbp:HGNC_ID |
HGNC:28245
|
| https://www.w3.org/2000/01/rdf-schema#label |
Chromosome 9 open reading frame 72
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:OMIM |
614260
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:C9orf72_(mouse)
|
| gptkbp:repeatExpansionAssociatedWith |
neurodegenerative disease
|
| gptkbp:symbol |
gptkb:C9orf72
|
| gptkbp:bfsParent |
gptkb:C9orf72
|
| gptkbp:bfsLayer |
5
|