MYBPC3 wt Allele

Preferred Label : MYBPC3 wt Allele;

NCIt synonyms : MYBP-C; CMH4; CMD1MM; LVNC10; FHC; Myosin Binding Protein C, Cardiac wt Allele;

NCIt definition : Human MYBPC3 wild-type allele is located in the vicinity of 11p11.2 and is approximately 21 kb in length. This allele, which encodes myosin-binding protein C, cardiac-type, plays a role in cardiac muscle cell contraction. Mutation of the gene is associated with hereditary hypertrophic cardiomyopathy.;

NCI Metathesaurus CUI : CL525101;

GenBank Accession Number : X84075;

Details

Origin ID

C138124;

UMLS CUI

C4521361;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, familial hypertrophic, 4 [OMIM Phenotype]
- Faisalabad histiocytosis [ORDO Disease]
- Ferritin heavy chain 1 [OMIM gene]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- Myosin-binding protein C, slow type [OMIM gene]
- ferritin heavy chain 1 [ORDO Gene]
- hypertrophic cardiomyopathy 4 [DO Concept]
- myosin binding protein C3 [ORDO Gene]
OMIM relation
- Myosin-binding protein C, cardiac [OMIM gene]
See also inter- (CISMeF)
- Left ventricular noncompaction 10 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_is_element_in_pathway
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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