SMN2 Gene - CISMeF

Preferred Label : SMN2 Gene;

NCIt synonyms : Survival of Motor Neuron 2, Centromeric Gene;

NCIt related terms : SMN2;

CISMeF acronym : SMN2;

NCIt definition : This gene plays a role in the modulation of spliceosome formation.;

Details

Origin ID

C127867;

UMLS CUI

C1420258;

Automatic exact mappings (from CISMeF team)
- SMN2 gene [LOINC component]
- Survival of motor neuron 2 [OMIM gene]
- survival of motor neuron 2, centromeric [ORDO Gene]
HGNC gene
- survival of motor neuron 2, centromeric [HGNC gene]
OMIM relation
- Survival of motor neuron 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SMN2 gene [LOINC component]
- Survival of motor neuron 2 [OMIM gene]
- survival of motor neuron 2, centromeric [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_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients