Terminology Service for NFDI4Health
NIPBL wt Allele
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http://purl.obolibrary.org/obo/NCIT_C75743
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. [ ]
Term info
Label
NIPBL wt Allele
Synonyms
- CDLS
- CDLS1
- DELANGIN
- DKFZp434L1319
- FLJ11203
- FLJ12597
- FLJ13354
- FLJ13648
- FLJ44854
- IDN3
- IDN3-B
- NIPBL wt Allele
- Nipped-B Homolog (Drosophila) wt Allele
EntrezGene ID
25836
GenBank Accession Number
AB019494
Legacy Concept Name
NIPBL_wt_Allele
OMIM Number
608667
Preferred Name
NIPBL wt Allele
Semantic Type
Gene or Genome
UMLS CUI
C2698412
code
C75743
Term relations
Subclass of:
- NIPBL Gene
- Gene_In_Chromosomal_Location some 5p13.2
- Gene_Associated_With_Disease some Cornelia De Lange Syndrome
- Gene_Found_In_Organism some Human