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).
All labels observed (1)
| Label | Occurrences |
|---|---|
| HGNC:28350 canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T6004838 — 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: HGNC:28350 Context triple: [C9orf72, HGNCID, HGNC:28350]
-
A.
ERBB2
ERBB2, also known as HER2, is a receptor tyrosine kinase frequently overexpressed in certain breast and other cancers and serves as a key therapeutic target.
-
B.
Gene
Gene is the given name of No Malice, the American rapper best known as one half of the hip hop duo Clipse.
-
C.
HGF
HGF is the abbreviation for the Helmholtz Association, Germany’s largest scientific research organization spanning multiple disciplines and large-scale facilities.
-
D.
HGF
HGF is the National Rail station code for Hag Fold railway station in Greater Manchester, England.
-
E.
HBG
HBG was a major Dutch construction and civil engineering company known for large-scale infrastructure and building projects in the Netherlands and abroad.
- 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: HGNC:28350 Target entity description: 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).
-
A.
ERBB2
ERBB2, also known as HER2, is a receptor tyrosine kinase frequently overexpressed in certain breast and other cancers and serves as a key therapeutic target.
-
B.
Gene
Gene is the given name of No Malice, the American rapper best known as one half of the hip hop duo Clipse.
-
C.
HGF
HGF is the abbreviation for the Helmholtz Association, Germany’s largest scientific research organization spanning multiple disciplines and large-scale facilities.
-
D.
HGF
HGF is the National Rail station code for Hag Fold railway station in Greater Manchester, England.
-
E.
HBG
HBG was a major Dutch construction and civil engineering company known for large-scale infrastructure and building projects in the Netherlands and abroad.
- F. None of above. chosen
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | HGNC gene entry ⓘ |
| alsoKnownAs |
ALSFTD1
ⓘ
C9ORF72 ⓘ
linked to:
C9orf72
MNDALS1 ⓘ |
| 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
ⓘ
linked to:
C9orf72
|
| expressedInTissue |
brain
ⓘ
central nervous system ⓘ spinal cord ⓘ |
| geneName | chromosome 9 open reading frame 72 ⓘ |
| geneSymbol | C9orf72 ⓘ |
| 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 ⓘ |
| 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 ⓘ |
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: HGNC:28350 Description of subject: 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).
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.