TGFB3 wt Allele

Preferred Label : TGFB3 wt Allele;

NCIt synonyms : Transforming Growth Factor, Beta 3 wt Allele; TGF-Beta3; TGFbeta3; RNHF; ARVD; Arrhythmogenic Right Ventricular Dysplasia 1 Gene; ARVD1;

NCIt definition : Human TGFB3 wild-type allele is located within 14q24 and is approximately 23 kb in length. This allele, which encodes transforming growth factor beta-3 protein, is involved in a wide variety of processes during embryogenesis and plays a role in cellular differentiation.;

GenBank Accession Number : NM_003239;

Details

Origin ID

C52017;

UMLS CUI

C1710291;

Automatic exact mappings (from CISMeF team)
- Arrhythmogenic right ventricular cardiomyopathy [ORDO Disease]
- Arrhythmogenic right ventricular dysplasia, familial, 1 [OMIM Phenotype]
- Arrhythmogenic ventricular cardiomyopathy with right ventricular dominance [ICD-11 More detail]
- Loeys-Dietz syndrome 5 [DO Concept]
- arrhythmogenic right ventricular cardiomyopathy [DO Concept]
- arrhythmogenic right ventricular cardiomyopathy [Radlex concept]
- arrhythmogenic right ventricular dysplasia [MeSH Descriptor]
- arrhythmogenic right ventricular dysplasia 1 [DO Concept]
- transforming growth factor beta3 [MeSH Descriptor]
OMIM relation
- Transforming growth factor, beta-3 [OMIM gene]
See also inter- (CISMeF)
- Loeys-dietz syndrome 5 [OMIM Phenotype]
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
- 14q24 [NCIt concept]
gene_is_element_in_pathway
- Amoebiasis Pathway [NCIt concept]
- Cell Cycle Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- Leishmaniasis Infection Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Malaria Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [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]
- Embryogenesis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Organogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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