TNNT2 wt Allele

Preferred Label : TNNT2 wt Allele;

NCIt synonyms : TnTC; Cardiomyopathy, Hypertrophic 2 Gene; Troponin T Type 2 (Cardiac) Gene; CMPD2; cTnT; RCM3; LVNC6; CMH2; CMD1D; Cardiomyopathy, Dilated 1D (Autosomal Dominant) Gene; Troponin T2, Cardiac Type wt Allele;

NCIt definition : Human TNNT2 wild-type allele is located in the vicinity of 1q32.1 and is approximately 19 kb in length. This allele, which encodes troponin T, cardiac muscle, is involved in muscle contraction.;

GenBank Accession Number : X74819;

Details

Origin ID

C104218;

UMLS CUI

C3538782;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1d [OMIM Phenotype]
- Cardiomyopathy, familial hypertrophic, 2 [OMIM Phenotype]
- Cardiomyopathy, familial restrictive, 3 [OMIM Phenotype]
- Familial restrictive cardiomyopathy type 3 [ORDO Disease]
- cardiomyopathy, familial restrictive, 3 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 2 [DO Concept]
- restrictive cardiomyopathy 3 [DO Concept]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- troponin T2, cardiac type [ORDO Gene]
OMIM relation
- Troponin t2, cardiac [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
- 1q32.1 [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]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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