ACVRL1 Gene - CISMeF

Preferred Label : ACVRL1 Gene;

NCIt synonyms : ACVRL1; Activin A Receptor, Type II-Like Kinase 1 Gene;

CISMeF acronym : ACVRL1;

NCIt definition : This gene is involved in the mediation of cell-surface receptor interactions for the TGF-beta superfamily of ligands.;

Details

Origin ID

C21269;

UMLS CUI

C1366767;

Automatic exact mappings (from CISMeF team)
- ACVRL1 gene [LOINC component]
- Activin a receptor, type II-like 1 [OMIM gene]
- activin A receptor like type 1 [ORDO Gene]
HGNC gene
- activin A receptor like type 1 [HGNC gene]
OMIM relation
- Activin a receptor, type II-like 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ACVRL1 gene [LOINC component]
- Activin a receptor, type II-like 1 [OMIM gene]
- activin A receptor like type 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Serine/Threonine-Protein Kinase Receptor R3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
gene_mapped_to_disease
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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