MSTN wt Allele

Preferred Label : MSTN wt Allele;

NCIt synonyms : Growth Differentiation Factor 8 Gene; Myostatin wt Allele; GDF8; MSLHP; GDF8 wt Allele;

NCIt definition : Human GDF8 wild-type allele is located in the vicinity of 2q32.2 and is approximately 7 kb in length. This allele, which encodes growth/differentiation factor 8 protein, is involved in the negative regulation of skeletal muscle growth.;

GenBank Accession Number : AF019627;

Details

Origin ID

C51537;

UMLS CUI

C2981235;

Automatic exact mappings (from CISMeF team)
- Muscle hypertrophy [OMIM Phenotype]
- Myostatin [OMIM gene]
- myostatin [MeSH Descriptor]
- myostatin [ORDO Gene]
- myostatin-related muscle hypertrophy [DO Concept]
OMIM relation
- Myostatin [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_has_physical_location
- 2: 190752961-190745933 [NCIt concept]
gene_in_chromosomal_location
- 2q32.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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