ITGB6 wt Allele

Preferred Label : ITGB6 wt Allele;

NCIt synonyms : Integrin, Beta 6 Gene; AI1H; Integrin Beta 6 wt Allele; Integrin, Beta-6 Gene;

NCIt definition : Human ITGB6 wild-type allele is located in the vicinity of 2q24.2 and is approximately 172 kb in length. This allele, which encodes integrin beta-6, is involved in cell matrix adhesion. Mutation of the gene is associated with amelogenesis imperfecta, type IH.;

GenBank Accession Number : NM_000888;

Details

Origin ID

C124266;

UMLS CUI

C4084852;

Automatic exact mappings (from CISMeF team)
- Amelogenesis imperfecta, type ih [OMIM Phenotype]
- amelogenesis imperfecta type 1H [DO Concept]
OMIM relation
- Integrin, beta-6 [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_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Heterodimerization [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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