DST wt Allele - CISMeF

Preferred Label : DST wt Allele;

NCIt synonyms : FLJ30627; BPAG1; DT; CATX15; KIAA0728; BP230; MACF2; Dystonin wt Allele; FLJ32235; DMH; D6S1101; BP240; FLJ21489; CATX-15; BPA; FLJ13425; HSAN6;

NCIt definition : Human DST wild-type allele is located in the vicinity of 6p12.1 and is approximately 497 kb in length. This allele, which encodes dystonin protein, is involved in the structure of cytoskeleton networks. Mutations in this gene are associated with Hereditary Sensory and Autonomic Neuropathy Type VI.;

GenBank Accession Number : NM_001723;

Details

Origin ID

C104890;

UMLS CUI

C3539739;

Automatic exact mappings (from CISMeF team)
- Basement membrane zone BP230 [LOINC component]
- DMH [MeSH concept]
- Domestic medium-haired cat (organism) [SNOMED CT concept]
- Due to (attribute) [SNOMED CT concept]
- Dystonin [OMIM gene]
- Hereditary sensory and autonomic neuropathy type 6 [ORDO Disease]
- Neuropathy, hereditary sensory and autonomic, type VI [OMIM Phenotype]
- Product containing diphtheria toxoid and tetanus toxoid adsorbed (medicinal product) [SNOMED CT concept]
- alcohol withdrawal delirium [MeSH Descriptor]
- dentatothalamic tract [UBERON concept]
- dorsomedial nucleus of hypothalamus [UBERON concept]
- drug therapy [MeSH Descriptor]
- dystonin [ORDO Gene]
- needlestick injuries [MeSH Descriptor]
False automatic mappings
- dimenhydrinate [MeSH Descriptor]
OMIM relation
- Dystonin [OMIM gene]
See also inter- (CISMeF)
- hereditary sensory and autonomic neuropathy type 6 [DO Concept]
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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients