Spg11 vesicle trafficking associated, spatacsin

Preferred Label : Spg11 vesicle trafficking associated, spatacsin;

Symbol : SPG11;

CISMeF acronym : SPG11;

Type : Gene;

Alternative titles and symbols : SPATACSIN; KIAA1840; FLJ21439;

Ensembl ID : ENSG00000104133;

Prefixed ID : *610844;

Details

Origin ID

610844;

UMLS CUI

C1420344;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive spastic paraplegia type 11 [ORDO Disease]
- SPG11 gene [LOINC component]
- SPG11 vesicle trafficking associated, spatacsin [ORDO Gene]
- SPG11 vesicle trafficking associated, spatacsin [HGNC gene]
- hereditary spastic paraplegia 11 [DO Concept]
HGNC gene
- SPG11 vesicle trafficking associated, spatacsin [HGNC gene]
NCIt concept(s)
- SPG11 Gene [NCIt concept]
- SPG11 wt Allele [NCIt concept]
- Spatacsin [NCIt concept]
ORDO concept(s)
- SPG11 vesicle trafficking associated, spatacsin [ORDO Gene]
Phenotypes related
- Amyotrophic lateral sclerosis 5, juvenile [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2x [OMIM Phenotype]
- Spastic paraplegia 11, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SPG11 gene [LOINC component]
- SPG11 vesicle trafficking associated, spatacsin [HGNC gene]

Keyword's position in hierarchy(ies) :

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