SMN1 wt Allele

Preferred Label : SMN1 wt Allele;

NCIt synonyms : SMA3; SMA4; BCD541; SMN; Survival of Motor Neuron 1, Telomeric wt Allele; Survival Motor Neuron 1 Protein Gene; T-BCD541; Spinal Muscular Atrophy (Werdnig-Hoffmann Disease, Kugelberg-Welander Disease) Gene; TDRD16A; GEMIN1; Survival of Motor Neuron 1 Gene; SMNT; SMA; Survival of Motor Neuron, Telomeric Copy Gene; Tudor Domain Containing 16A Gene; SMA1; SMA2;

NCIt definition : Human SMN1 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor neuron protein, is involved in the modulation of spliceosome assembly. Mutation of the gene is associated with spinal muscular atrophy types 1 through 4.;

NCIt note : The SMN1 gene is part of a 500 kb inverted duplication on chromosome 5q13. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. (EntrezGene);

NCI Metathesaurus CUI : CL509350;

GenBank Accession Number : U18423;

Détails

Origin ID

C127864;

UMLS CUI

C4284041;

Automatic exact mappings (from CISMeF team)
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy [ORDO Disease]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
- Small nuclear ribonucleoprotein polypeptide n [OMIM gene]
- Smooth muscle Ab [LOINC component]
- Spinal muscular atrophy, type I [OMIM Phenotype]
- Spinal muscular atrophy, type II [OMIM Phenotype]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, type III [OMIM Phenotype]
- Spinal muscular atrophy, type iv [OMIM Phenotype]
- Stathmin 1 [OMIM gene]
- Survival of motor neuron 1 [OMIM gene]
- Werdnig-Hoffmann disease [DO Concept]
- adult spinal muscular atrophy [DO Concept]
- intermediate spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [DO Concept]
- muscular atrophy, spinal [MeSH Descriptor]
- small nuclear ribonucleoprotein polypeptide N [ORDO Gene]
- spinal muscular atrophy [MedlinePlus Topic]
- superior mesenteric artery [Radlex concept]
- survival of motor neuron 1, telomeric [ORDO Gene]
- survival of motor neuron 1, telomeric [HGNC gene]
- survival of motor neuron 2, centromeric [ORDO Gene]
OMIM relation
- Survival of motor neuron 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- RNA Splicing [NCIt concept]

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