CDAN1 wt Allele

Preferred Label : CDAN1 wt Allele;

NCIt synonyms : DLT; CDA1; Congenital Dyserythropoietic Anemia, Type I wt Allele; Discs Lost Homolog Gene; CDA-I; Codanin Gene; CDAI; UNQ664/PRO1295; PRO1295; Discs Lost, Drosophila, Homolog of Gene;

NCIt definition : Human CDAN1 wild-type allele is located in the vicinity of 15q15.2 and is approximately 14 kb in length. This allele, which encodes codanin-1 protein, may play a role in the maintenance of the nuclear envelope. Mutation of the gene is associated with congenital dyserythropoietic anemia type I.;

GenBank Accession Number : AF525398;

Details

Origin ID

C97931;

UMLS CUI

C3273706;

Automatic exact mappings (from CISMeF team)
- Anemia, congenital dyserythropoietic, type ia [OMIM Phenotype]
- Codanin 1 [OMIM gene]
- Tspy-like 2 [OMIM gene]
- codanin 1 [ORDO Gene]
OMIM relation
- Codanin 1 [OMIM gene]
See also inter- (CISMeF)
- Congenital dyserythropoietic anemia type I [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q15.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Congenital Dyserythropoietic Anemia [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients