DES wt Allele - CISMeF

Preferred Label : DES wt Allele;

NCIt synonyms : CSM1; CSM2; Desmin wt Allele; FLJ12025; CMD1I; FLJ39719; FLJ41793; FLJ41013;

NCIt definition : Human DES wild-type allele is located in the vicinity of 2q35 and is approximately 8 kb in length. This allele, which encodes desmin protein, plays a role in muscle cell contraction. Mutation of the gene is associated with myopathy myofibrillar desmin-related, cardiomyopathy dilated type 1I and neurogenic scapuloperoneal syndrome Kaeser type.;

GenBank Accession Number : AF521879;

Details

Origin ID

C96449;

UMLS CUI

C3272785;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1i [OMIM Phenotype]
- desmin [ORDO Gene]
- dilated cardiomyopathy 1I [DO Concept]
OMIM relation
- Desmin [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
- 2q35 [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Aurora B Signaling Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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