NIPBL wt Allele

Preferred Label : NIPBL wt Allele;

NCIt synonyms : FLJ13648; FLJ11203; DELANGIN; DKFZp434L1319; IDN3; IDN3-B; FLJ12597; FLJ44854; CDLS; CDLS1; Nipped-B Homolog (Drosophila) wt Allele; FLJ13354;

NCIt definition : Human NIPBL wild-type allele is located in the vicinity of 5p13.2 and is approximately 189 kb in length. This allele, which encodes nipped-B-like protein, plays a role in the mediation of both limb development and cartilage formation. Mutations in the gene are associated with Cornelia de Lange syndrome.;

GenBank Accession Number : AB019494;

Details

Origin ID

C75743;

UMLS CUI

C2698412;

OMIM relation
- Nipped-b-like [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Cornelia De Lange Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.2 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Chromatin Remodeling [NCIt concept]
- Limb Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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