ACVRL1 wt Allele

Preferred Label : ACVRL1 wt Allele;

NCIt synonyms : Activin Receptor-Like Kinase 1 Gene; HHT; ORW2; ALK1; ACVRL1; SKR3; ALK-1; HHT2; ACVRLK1; Activin A Receptor, Type II-Like Kinase 1 wt Allele;

NCIt definition : Human ACVRL1 wild-type allele is located within 12q11-q14 and is approximately 14 kb in length. This allele, which encodes serine/threonine-protein kinase receptor R3 protein, is involved in receptor signal transduction. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2, which is also also known as Rendu-Osler-Weber syndrome 2.;

GenBank Accession Number : NM_000020;

Details

Origin ID

C51725;

UMLS CUI

C1704836;

False automatic mappings
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
OMIM relation
- Activin a receptor, type II-like 1 [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
- 12: 50587469-50601120 [NCIt concept]
gene_in_chromosomal_location
- 12q11-q14 [NCIt concept]
gene_involved_in_pathogenesis_of_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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