chromosome 9 open reading frame 72
E561105
Chromosome 9 open reading frame 72 (C9orf72) is a human gene best known for its hexanucleotide repeat expansions that are a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
All labels observed (1)
| Label | Occurrences |
|---|---|
| chromosome 9 open reading frame 72 canonical | 2 |
How this entity was disambiguated
This entity first appeared as the object of triple T6004851 — 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: chromosome 9 open reading frame 72 Context triple: [C9orf72, fullName, chromosome 9 open reading frame 72]
-
A.
R99
R99 is a designation commonly used to refer to the 99th iteration or version of a software, standard, or product release.
-
B.
9N
9N is the designation for a New York State highway that runs along portions of the Hudson River and Lake George, serving communities in the eastern part of the state.
-
C.
PH-960
PH-960 is a large abstract expressionist painting by Clyfford Still, characterized by his signature jagged fields of color and monumental vertical composition.
-
D.
91-902
91-902 is the U.S. Supreme Court docket number for Planned Parenthood v. Casey, the landmark 1992 abortion rights case that reaffirmed and modified Roe v. Wade.
-
E.
GS9
GS9 is a Brooklyn-based hip hop collective and crew closely associated with rapper Bobby Shmurda and the New York drill scene.
- 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: chromosome 9 open reading frame 72 Target entity description: Chromosome 9 open reading frame 72 (C9orf72) is a human gene best known for its hexanucleotide repeat expansions that are a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
A.
R99
R99 is a designation commonly used to refer to the 99th iteration or version of a software, standard, or product release.
-
B.
9N
9N is the designation for a New York State highway that runs along portions of the Hudson River and Lake George, serving communities in the eastern part of the state.
-
C.
PH-960
PH-960 is a large abstract expressionist painting by Clyfford Still, characterized by his signature jagged fields of color and monumental vertical composition.
-
D.
91-902
91-902 is the U.S. Supreme Court docket number for Planned Parenthood v. Casey, the landmark 1992 abortion rights case that reaffirmed and modified Roe v. Wade.
-
E.
GS9
GS9 is a Brooklyn-based hip hop collective and crew closely associated with rapper Bobby Shmurda and the New York drill scene.
- F. None of above. chosen
Statements (48)
| Predicate | Object |
|---|---|
| instanceOf |
disease-associated gene
ⓘ
human gene ⓘ |
| associatedWithBiologicalProcess |
autophagy
ⓘ
immune regulation ⓘ lysosomal homeostasis ⓘ vesicle trafficking ⓘ |
| associatedWithClinicalFeature |
behavioral changes
ⓘ
early-onset dementia ⓘ motor neuron degeneration ⓘ parkinsonism in some carriers ⓘ |
| associatedWithDisease |
ALS-FTD spectrum disorders
ⓘ
amyotrophic lateral sclerosis ⓘ frontotemporal dementia ⓘ |
| associatedWithPathology |
RNA foci
ⓘ
TDP-43 proteinopathy ⓘ dipeptide repeat protein aggregates ⓘ |
| associatedWithPhenotype |
ALS with cognitive impairment
ⓘ
behavioral variant frontotemporal dementia ⓘ familial ALS ⓘ familial frontotemporal dementia ⓘ sporadic ALS ⓘ |
| encodes |
C9orf72 protein
ⓘ
linked to:
C9orf72
|
| expansionLocation |
non-coding region
ⓘ
promoter or first intron region ⓘ |
| expressedInTissue |
central nervous system
ⓘ
frontal cortex ⓘ motor neurons ⓘ |
| fullName | chromosome 9 open reading frame 72 ⓘ |
| geneticTestingUse |
diagnosis of familial ALS
ⓘ
diagnosis of familial frontotemporal dementia ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| locatedOnChromosome | chromosome 9 ⓘ |
| molecularConsequence |
haploinsufficiency
ⓘ
toxic RNA gain-of-function ⓘ toxic dipeptide repeat protein gain-of-function ⓘ |
| mutationTypeInDisease | hexanucleotide repeat expansion ⓘ |
| normalAlleleFeature | short G4C2 repeat length ⓘ |
| pathogenicVariantType | large hexanucleotide repeat expansion ⓘ |
| proteinComplexAssociation |
SMCR8-C9orf72-WDR41 complex
ⓘ
linked to:
SMCR8-WDR41 complex
|
| proteinFunction |
endosomal-lysosomal pathway regulation
ⓘ
regulation of autophagy ⓘ regulation of membrane trafficking ⓘ |
| repeatExpansionEffect |
aberrant RNA foci formation
ⓘ
production of dipeptide repeat proteins via RAN translation ⓘ reduced C9orf72 transcript levels ⓘ |
| repeatMotif |
G4C2
ⓘ
GGGGCC ⓘ |
| symbol | C9orf72 ⓘ |
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: chromosome 9 open reading frame 72 Description of subject: Chromosome 9 open reading frame 72 (C9orf72) is a human gene best known for its hexanucleotide repeat expansions that are a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Referenced by (2)
Full triples — surface form annotated when it differs from this entity's canonical label.