survival of motor neuron 1, telomeric

Preferred Label : survival of motor neuron 1, telomeric;

Approved symbol HGNC : SMN1;

Name synonyms HGNC : tudor domain containing 16A; gemin-1;

Alias symbols HGNC : BCD541; TDRD16A; GEMIN1; SMNT; SMA3; SMA1; SMA2;

Chromosome HGNC : 5q13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000172062;

Details

Origin ID

HGNC:11117;

UMLS CUI

C1420257;

Automatic exact mappings (from CISMeF team)
- SMN1 wt Allele [NCIt concept]
- SMN2 wt Allele [NCIt concept]
- Spinal muscular atrophy, type I [OMIM Phenotype]
- Spinal muscular atrophy, type II [OMIM Phenotype]
- Spinal muscular atrophy, type III [OMIM Phenotype]
- Survival Motor Neuron Protein [NCIt concept]
- Survival of motor neuron 1 [OMIM gene]
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 2, centromeric [ORDO Gene]
NCIt concept
- SMN1 Gene [NCIt concept]
OMIM gene
- Survival of motor neuron 1 [OMIM gene]
Orphanet gene
- survival of motor neuron 1, telomeric [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SMN1 Gene [NCIt concept]
- SMN1 gene [LOINC component]
- Survival of motor neuron 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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