C9orf72
E133683
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
All labels observed (2)
| Label | Occurrences |
|---|---|
| C9orf72 canonical | 2 |
| C9orf72 protein | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T1169534 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: C9orf72 Context triple: [ALS, associatedWithGene, C9orf72]
-
A.
APOE ε4 allele
The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
Protogeneia
Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
-
E.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: C9orf72 Target entity description: C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
A.
APOE ε4 allele
The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
Protogeneia
Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
-
E.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
- F. None of above. chosen
Statements (46)
| Predicate | Object |
|---|---|
| instanceOf |
human gene
ⓘ
protein-coding gene ⓘ |
| associatedWithClinicalFeature |
behavioral variant frontotemporal dementia
ⓘ
bulbar-onset ALS ⓘ psychiatric symptoms ⓘ |
| associatedWithDisease |
ALS-FTD spectrum disorder
ⓘ
sporadic ALS ⓘ sporadic FTD ⓘ |
| associatedWithPathology | TDP-43 proteinopathy ⓘ |
| chromosomalBand | 9p21.2 ⓘ |
| discoveredAsALSFTDGeneIn | 2011 ⓘ |
| encodes |
C9orf72
self-linksurface differs
ⓘ
surface form:
C9orf72 protein
|
| EnsemblGeneID | ENSG00000147894 ⓘ |
| expansionOfRepeatAssociatedWith |
amyotrophic lateral sclerosis
ⓘ
frontotemporal dementia ⓘ |
| expressedIn |
central nervous system
ⓘ
neurons ⓘ |
| forms | RNA foci ⓘ |
| formsComplexWith | SMCR8-WDR41 complex ⓘ |
| fullName | chromosome 9 open reading frame 72 ⓘ |
| geneSymbol | C9orf72 self-link ⓘ |
| hasHexanucleotideRepeat | GGGGCC ⓘ |
| HGNCID | HGNC:28350 ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| interactsWith |
SMCR8
ⓘ
WDR41 ⓘ |
| involvedIn |
autophagy regulation
ⓘ
endosomal trafficking ⓘ |
| locatedOnChromosome | chromosome 9 ⓘ |
| mostCommonGeneticCauseOf |
familial ALS
ⓘ
familial FTD ⓘ |
| mutationType | hexanucleotide repeat expansion ⓘ |
| NCBIGeneID | 203228 ⓘ |
| OMIMID | 614260 ⓘ |
| organism | Homo sapiens ⓘ |
| pathogenicMechanism |
RNA toxicity
ⓘ
dipeptide repeat protein toxicity ⓘ haploinsufficiency ⓘ |
| produces | dipeptide repeat proteins via RAN translation ⓘ |
| repeatExpansionDetectedBy |
Southern blot
ⓘ
repeat-primed PCR ⓘ |
| repeatLocation |
first intron
ⓘ
non-coding region ⓘ promoter region ⓘ |
| repeatUnitLength | 6 nucleotides ⓘ |
| UniProtID | Q96LT7 ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: C9orf72 Description of subject: C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.