SMN1 Gene - CISMeF

Preferred Label : SMN1 Gene;

NCIt synonyms : Survival of Motor Neuron 1, Telomeric Gene;

NCIt related terms : SMN1;

CISMeF acronym : SMN1;

NCIt definition : This gene plays a role in assembly of small nuclear ribonucleoproteins.;

Details

Origin ID

C127862;

UMLS CUI

C1420257;

Automatic exact mappings (from CISMeF team)
- SMN1 gene [LOINC component]
- Survival of motor neuron 1 [OMIM gene]
- survival of motor neuron 1, telomeric [ORDO Gene]
HGNC gene
- survival of motor neuron 1, telomeric [HGNC gene]
OMIM relation
- Survival of motor neuron 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SMN1 gene [LOINC component]
- Survival of motor neuron 1 [OMIM gene]
- survival of motor neuron 1, telomeric [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Survival Motor Neuron Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Spinal Muscular Atrophy Type 2 [NCIt concept]
- Spinal Muscular Atrophy Type 3 [NCIt concept]
- Werdnig-Hoffmann Disease [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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