AVP wt Allele - CISMeF

Preferred Label : AVP wt Allele;

NCIt synonyms : AVP; AVP-NPII; ARVP; AVRP; Arginine Vasopressin wt Allele; ADH; VP; Arginine Vasopressin (Neurophysin II, Antidiuretic Hormone, Diabetes Insipidus, Neurohypophyseal) Gene;

NCIt definition : Human AVP wild-type allele is located in the vicinity of 20p13 and is approximately 3 kb in length. This allele, which encodes vasopressin-neurophysin 2-copeptin protein, is involved in the mediation of a wide variety of bodily functions. Mutations in the gene results in autosomal dominant neurohypophyseal diabetes insipidus.;

NCIt note : The AVT gene product is a precursor for arg-vasopressin, neurophysin 2, and copeptin. (SwissProt);

GenBank Accession Number : NM_000490;

Details

Origin ID

C52392;

UMLS CUI

C1706109;

Currated CISMeF NLP mapping
- VP(1) [MeSH concept]
- VP(2) [MeSH concept]
- VP(3) [MeSH concept]
- VP(6) [MeSH concept]
- VP(7) [MeSH concept]
False automatic mappings
- Vasopressin [ICD-11 Extension code]
OMIM relation
- Arginine vasopressin [OMIM gene]
See also inter- (CISMeF)
- Variegate porphyria [ICD-11 Sub-sub category]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Diabetes Insipidus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 20: 3014058-3011186 [NCIt concept]
gene_in_chromosomal_location
- 20p13 [NCIt concept]
gene_is_element_in_pathway
- Bone Remodeling Pathway [NCIt concept]
- IFN Alpha Signaling Pathway [NCIt concept]
- Skeletal Myogenesis Pathway [NCIt concept]
- Vasopressin-Regulated Water Reabsorption Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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