NT5E wt Allele

Preferred Label : NT5E wt Allele;

NCIt synonyms : RP11-321N4.1; NT5; CD73; 5'-Nucleotidase, Ecto (CD73) wt Allele; NTE; NT; eN; E5NT; 5' Nucleotidase (CD73) Gene; CALJA; eNT;

NCIt definition : Human NT5E wild-type allele is located within 6q14-q21 and is approximately 46 kb in length. This allele, which encodes 5'-nucleotidase protein, plays a role in nucleoside formation. Mutation of the gene is associated with calcification of joints and arteries.;

GenBank Accession Number : X55740;

Details

Origin ID

C114925;

UMLS CUI

C3889152;

Automatic exact mappings (from CISMeF team)
- 5'-Nucleotidase [LOINC component]
- 5'-Nucleotidase [MeSH Descriptor]
- 5'-nucleotidase ecto [ORDO Gene]
- Calcification of joints and arteries [OMIM Phenotype]
- ENT [LOINC System]
- ENT [HPMULTI term]
- Ear, Nose, Throat [LOINC System]
- Ear, nose and throat surgery (qualifier value) [SNOMED CT concept]
- Ecto-5-prime nucleotidase [OMIM gene]
- Entitic (property) (qualifier value) [SNOMED CT concept]
- Hereditary arterial and articular multiple calcification syndrome [ORDO Disease]
- Neurotrophin 4 [OMIM gene]
- No treatment required for (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Patatin-like phospholipase domain-containing protein 6 [OMIM gene]
- Pyrimidine-5'-Nucleotidase [LOINC component]
- ent [IUPAC Term]
- hereditary arterial and articular multiple calcification syndrome [DO Concept]
- neurotransmitter agents [MeSH Descriptor]
- patatin like phospholipase domain containing 6 [ORDO Gene]
OMIM relation
- Ecto-5-prime nucleotidase [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_is_element_in_pathway
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Nicotinate and Nicotinamide Metabolism Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients