ASPM wt Allele

Preferred Label : ASPM wt Allele;

NCIt synonyms : Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila)wt Allele; Microcephaly, Primary Autosomal Recessive 5 Gene; FLJ10549; RP11-32D17.1; Calmbp1; Abnormal Spindle-Like, Microcephaly-Associated Gene; ASP, Drosophila, Homolog of Gene; FLJ10517; Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila) Gene; ASP; MCPH5;

NCIt definition : Human ASPM wild-type allele is located in the vicinity of 1q31 and is approximately 63 kb in length. This allele, which encodes abnormal spindle-like microcephaly-associated protein, is involved in the regulation of the mitotic spindle. Mutation of the gene is associated with primary microcephaly type 5.;

GenBank Accession Number : AY367065;

Details

Origin ID

C118990;

UMLS CUI

C3890396;

Automatic exact mappings (from CISMeF team)
- ASPED [MedDRA LLT]
- Agouti signaling protein [OMIM gene]
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
- Angel-shaped phalangoepiphyseal dysplasia [OMIM Phenotype]
- Apobec1 complementation factor [OMIM gene]
- Aspirate [LOINC System]
- Autophagy-related 5 [OMIM gene]
- Complement component 3 [OMIM gene]
- Microcephaly 5, primary, autosomal recessive [OMIM Phenotype]
- Naja haje (organism) [SNOMED CT concept]
- Rhophilin associated tail protein 1-like [OMIM gene]
- aspartoacylase [ORDO Gene]
- assembly factor for spindle microtubules [ORDO Gene]
- primary autosomal recessive microcephaly 5 [DO Concept]
- viperidae [MeSH Descriptor]
OMIM relation
- Abnormal spindle-like, microcephaly-associated [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_in_chromosomal_location
- 1q31 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Mitotic Chromosomal Process [NCIt concept]
- Nuclear Division [NCIt concept]

Keyword's position in hierarchy(ies) :

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