TNNI3 wt Allele

Preferred Label : TNNI3 wt Allele;

NCIt synonyms : CMD2A; cTnI; TNNC1; Troponin I Type 3 (Cardiac) wt Allele; CMH7; RCM1; CMD1FF;

NCIt definition : Human TNNI3 wild-type allele is located in the vicinity of 19q13.4 and is approximately 6 kb in length. This allele, which encodes troponin I, cardiac muscle, plays a role in muscle filament sliding.;

GenBank Accession Number : M64247;

Details

Origin ID

C104224;

UMLS CUI

C3538828;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1ff [OMIM Phenotype]
- Cardiomyopathy, dilated, 2a [OMIM Phenotype]
- Cardiomyopathy, familial hypertrophic, 7 [OMIM Phenotype]
- Cardiomyopathy, familial restrictive, 1 [OMIM Phenotype]
- Nop2/sun rna methyltransferase family, member 5 [OMIM gene]
- Troponin C, slow [OMIM gene]
- cardiomyopathy, dilated, 1FF [MeSH Supplementary Concept]
- restrictive cardiomyopathy 1 [DO Concept]
- troponin C1, slow skeletal and cardiac type [ORDO Gene]
- troponin I3, cardiac type [ORDO Gene]
OMIM relation
- Troponin I, cardiac [OMIM gene]
See also inter- (CISMeF)
- dilated cardiomyopathy 1FF [DO Concept]
- dilated cardiomyopathy 2A [DO Concept]
- hypertrophic cardiomyopathy 7 [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]
gene_in_chromosomal_location
- 19q13.4 [NCIt concept]
gene_is_element_in_pathway
- Cardiac Muscle Contraction 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 Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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