HGNC:28350
E561104
HGNC:28350 is the HGNC gene identifier assigned to the human C9orf72 gene, which is notably associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | HGNC gene entry ⓘ |
| alsoKnownAs |
ALSFTD1
NERFINISHED
ⓘ
C9ORF72 NERFINISHED ⓘ MNDALS1 NERFINISHED ⓘ |
| associatedWithBiomarker | C9orf72 repeat expansion testing ⓘ |
| associatedWithDisease |
ALS-FTD spectrum disorder
ⓘ
amyotrophic lateral sclerosis type 21 ⓘ familial amyotrophic lateral sclerosis ⓘ frontotemporal dementia ⓘ frontotemporal lobar degeneration ⓘ |
| associatedWithPathway |
autophagy regulation
ⓘ
endosomal trafficking ⓘ |
| associatedWithProcess |
neurodegeneration
ⓘ
neuronal survival ⓘ |
| chromosome | 9 ⓘ |
| clinicalTesting |
genetic testing for ALS
ⓘ
genetic testing for FTD ⓘ |
| databaseCrossReference |
Ensembl:ENSG00000147894
ⓘ
NCBI Gene:203228 ⓘ OMIM:105550 ⓘ OMIM:614260 ⓘ UniProt:Q96LT7 ⓘ |
| discoveryContext | familial ALS-FTD linkage studies ⓘ |
| encodes | C9orf72 protein NERFINISHED ⓘ |
| expressedInTissue |
brain
ⓘ
central nervous system ⓘ spinal cord ⓘ |
| geneName | chromosome 9 open reading frame 72 ⓘ |
| geneSymbol | C9orf72 NERFINISHED ⓘ |
| genomicLocation | 9p21.2 ⓘ |
| hasGeneticVariation | GGGGCC hexanucleotide repeat expansion ⓘ |
| hasMolecularConsequence |
RNA foci formation
ⓘ
dipeptide repeat protein production ⓘ haploinsufficiency ⓘ |
| identifiedAs |
major genetic cause of familial ALS
ⓘ
major genetic cause of familial FTD ⓘ |
| identifierFor | C9orf72 NERFINISHED ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| linkedToPhenotype |
behavioral variant frontotemporal dementia
ⓘ
bulbar-onset ALS ⓘ frontotemporal cognitive impairment ⓘ limb-onset ALS ⓘ motor neuron degeneration ⓘ |
| locusType | protein-coding gene ⓘ |
| mappedToCytoband | 9p21 ⓘ |
| mutationType | repeat expansion ⓘ |
| organism | Homo sapiens ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.