RTEL1 wt Allele

Preferred Label : RTEL1 wt Allele;

NCIt synonyms : DKCA4; DKCB5; DKFZP434C013; Regulator of Telomere Elongation Helicase 1 wt Allele; NHL; Chromosome 20 Open Reading Frame 41 Gene; KIAA1088; bK3184A7.3; C20orf41; PFBMFT3; RTEL;

NCIt definition : Human RTEL1 wild-type allele is located in the vicinity of 20q13.33 and is approximately 38 kb in length. This allele, which encodes regulator of telomere elongation helicase 1 protein, is involved in telomere and chromosome maintenance. Mutation of the gene is associated with telomere-related pulmonary fibrosis and/or bone marrow failure 3 and dyskeratosis congenita types autosomal dominant 4 and autosomal recessive 5.;

NCI Metathesaurus CUI : CL522181;

GenBank Accession Number : AB029011;

Details

Origin ID

C134633;

UMLS CUI

C4521504;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita, autosomal recessive 5 [OMIM Phenotype]
- Lymphoma, non-hodgkin, familial [OMIM Phenotype]
- Malignant lymphoma, not elsewhere classified [ICD-11 Subcategory]
- NHL [LOINC method]
- Non-Hodgkin lymphoma [ORDO Disease]
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 [OMIM Phenotype]
- Regulator of telomere elongation helicase 1 [OMIM gene]
- autosomal dominant dyskeratosis congenita 4 [DO Concept]
- autosomal recessive dyskeratosis congenita 5 [DO Concept]
- regulator of telomere elongation helicase 1 [ORDO Gene]
OMIM relation
- Regulator of telomere elongation helicase 1 [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
- 20q13.33 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Recombination Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Telomere Length Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients