5q13 (SMN1)
E561092
5q13 (SMN1) is a gene located on chromosome 5 whose proper function is critical for motor neuron survival and whose mutations are the primary cause of spinal muscular atrophy.
All labels observed (1)
| Label | Occurrences |
|---|---|
| 5q13 (SMN1) canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T6004703 — 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: 5q13 (SMN1) Context triple: [Survival motor neuron protein, chromosomalLocationOfGene, 5q13 (SMN1)]
-
A.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
B.
C9orf72
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).
-
C.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
D.
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.
-
E.
survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
- 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: 5q13 (SMN1) Target entity description: 5q13 (SMN1) is a gene located on chromosome 5 whose proper function is critical for motor neuron survival and whose mutations are the primary cause of spinal muscular atrophy.
-
A.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
B.
C9orf72
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).
-
C.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
D.
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.
-
E.
survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
- F. None of above. chosen
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | gene ⓘ |
| associatedWithDisease |
spinal muscular atrophy
ⓘ
spinal muscular atrophy type I ⓘ
linked to:
spinal muscular atrophy
spinal muscular atrophy type II ⓘ
linked to:
spinal muscular atrophy
spinal muscular atrophy type III ⓘ
linked to:
spinal muscular atrophy
spinal muscular atrophy type IV ⓘ
linked to:
spinal muscular atrophy
|
| biologicalProcess |
motor neuron survival
ⓘ
pre-mRNA splicing ⓘ small nuclear ribonucleoprotein assembly ⓘ spliceosomal snRNP biogenesis ⓘ |
| cellularComponent |
Cajal body
ⓘ
linked to:
Cajal bodies
cytoplasm ⓘ nucleus ⓘ |
| chromosomalRegionCharacteristic | segmental duplication hotspot ⓘ |
| chromosomeStrand | plus strand (forward) ⓘ |
| clinicalSignificanceOfLoss |
progressive motor neuron degeneration
ⓘ
proximal muscle weakness ⓘ |
| clinicalTesting |
carrier screening for spinal muscular atrophy
ⓘ
diagnostic testing for spinal muscular atrophy ⓘ |
| encodesProtein |
SMN protein
ⓘ
linked to:
survival motor neuron protein
|
| EnsemblGeneID | ENSG00000172062 ⓘ |
| expressedInCellType | motor neuron ⓘ |
| expressedInTissue |
brain
ⓘ
spinal cord ⓘ |
| geneType | protein-coding ⓘ |
| genomicRegion | 5q13.2 ⓘ |
| hasAlternativeName |
SMN
ⓘ
survival motor neuron 1 ⓘ
linked to:
SMN1 gene
|
| hasFullName |
survival of motor neuron 1
ⓘ
linked to:
SMN1 gene
|
| hasParalog | SMN2 ⓘ |
| hasPseudogene | SMN2-like copies in 5q13 region ⓘ |
| hasSymbol | SMN1 ⓘ |
| HGNCID | HGNC:11117 ⓘ |
| inheritancePatternWhenMutated | autosomal recessive ⓘ |
| isDosageSensitive | true ⓘ |
| isPrimaryGeneticCauseOf | spinal muscular atrophy ⓘ |
| isTargetOfTherapy | antisense oligonucleotide therapy via SMN2 modulation ⓘ |
| locatedInCytogeneticBand | 5q13 ⓘ |
| locatedOnChromosome | chromosome 5 ⓘ |
| molecularFunction |
RNA binding
ⓘ
small nuclear ribonucleoprotein complex binding ⓘ |
| mutationTypeCausingDisease |
homozygous deletion
ⓘ
loss-of-function mutation ⓘ |
| NCBIEntrezGeneID | 6606 ⓘ |
| OMIMID | 600354 ⓘ |
| organism | Homo sapiens ⓘ |
| pathwayInvolvement | mRNA splicing via spliceosome ⓘ |
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: 5q13 (SMN1) Description of subject: 5q13 (SMN1) is a gene located on chromosome 5 whose proper function is critical for motor neuron survival and whose mutations are the primary cause of spinal muscular atrophy.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.
subject linked to:
survival motor neuron protein