DCX wt Allele - CISMeF

Preferred Label : DCX wt Allele;

NCIt synonyms : LISX; DBCN; Doublecortex Gene; XLIS; SCLH; DC; Doublecortex; Lissencephaly, X-Linked (Doublecortin) Gene; Doublecortin wt Allele;

NCIt definition : Human DCX wild-type allele is located within Xq22.3-q23 and is approximately 119 kb in length. This allele, which encodes neuronal migration protein doublecortin, plays a role in the mediation of neural migration. Mutations in the gene are associated with lissencephaly X-linked type 1 and subcortical band heterotopia X-linked.;

GenBank Accession Number : AF040254;

Détails

Origin ID

C75323;

UMLS CUI

C2699546;

Automatic exact mappings (from CISMeF team)
- Doublecortin [OMIM gene]
- Dyskeratosis congenita [ORDO Disease]
- Ichthyosis, X-linked [OMIM Phenotype]
- Lissencephaly 1 [OMIM Phenotype]
- Lissencephaly, X-linked, 1 [OMIM Phenotype]
- cardiac output [MeSH Descriptor]
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
- dilatation and curettage [MeSH Descriptor]
- doublecortin [ORDO Gene]
- dyskeratosis congenita [MeSH Descriptor]
- frequency-domain fluorometry [IUPAC Term]
False automatic mappings
- Chanarin-dorfman syndrome [OMIM Phenotype]
OMIM relation
- Doublecortin [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
- Cell Movement Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Neural Development [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

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