HGNC:11117
E1550451
UNEXPLORED
HGNC:11117 corresponds to the SMN1 gene, which encodes the survival motor neuron protein whose loss of function is the primary cause of spinal muscular atrophy.
All labels observed (1)
| Label | Occurrences |
|---|---|
| HGNC:11117 canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T22692758 — 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:11117 Context triple: [5q13 (SMN1), HGNCID, HGNC:11117]
-
A.
HGNC:28350
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).
-
B.
Ensembl
Ensembl is a comprehensive genome annotation and browsing platform that provides detailed, regularly updated genomic data for a wide range of species.
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C.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
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D.
RefSeq
RefSeq is a curated, non-redundant collection of reference DNA, RNA, and protein sequences maintained by the National Center for Biotechnology Information for use in genome annotation and biological research.
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E.
Hoxa
Hoxa is a small settlement on the Orkney island of South Ronaldsay in Scotland, known for its coastal setting and nearby historic sites.
- 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:11117 Target entity description: HGNC:11117 corresponds to the SMN1 gene, which encodes the survival motor neuron protein whose loss of function is the primary cause of spinal muscular atrophy.
-
A.
HGNC:28350
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).
-
B.
Ensembl
Ensembl is a comprehensive genome annotation and browsing platform that provides detailed, regularly updated genomic data for a wide range of species.
-
C.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
-
D.
RefSeq
RefSeq is a curated, non-redundant collection of reference DNA, RNA, and protein sequences maintained by the National Center for Biotechnology Information for use in genome annotation and biological research.
-
E.
Hoxa
Hoxa is a small settlement on the Orkney island of South Ronaldsay in Scotland, known for its coastal setting and nearby historic sites.
- F. None of above. chosen
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.