DDX41 wt Allele

Preferred Label : DDX41 wt Allele;

NCIt synonyms : Abstrakt, Drosophila, Homolog of Gene; MGC8828; ABS; DEAD-Box Helicase 41 wt Allele; MPLPF; DEAD/H Box 41 Gene; DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41 Gene; Drosophila Abstrakt Homolog Gene;

NCIt definition : Human DDX41 wild-type allele is located in the vicinity of 5q35.3 and is approximately 6 kb in length. This allele, which encodes probable ATP-dependent RNA helicase DDX41 protein, may be involved in the functionality of the spliceosome. Heterozygous mutation of the gene may be associated with susceptibility to multiple types of familial myeloproliferative and lymphoproliferative neoplasms.;

NCI Metathesaurus CUI : CL553257;

GenBank Accession Number : AF195417;

Details

Origin ID

C151914;

UMLS CUI

C4723885;

Automatic exact mappings (from CISMeF team)
- Constricting bands, congenital [OMIM Phenotype]
- DEAD-box helicase 41 [ORDO Gene]
- Dead-box helicase 41 [OMIM gene]
- Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to [OMIM Phenotype]
OMIM relation
- Dead-box helicase 41 [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
- 5q35.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline DDX41 Mutation [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Hydrolysis [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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