ACVRL1
Respiratory System · Pulmonary Gas Exchange & Ventilatory Control
How does ACVRL1 help developing blood vessels receive instructions?
ACVRL1 makes a receptor kinase on cells lining blood vessels. It relays growth-related signals that help organize vascular development and maintenance.
- Common Gene Name
- activin A receptor like type 1
- NCBI Gene ID
- 94
- Chromosome
- 12
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (5 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| telangiectasia, hereditary hemorrhagic, type 2 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2022-12-05 |
| Pulmonary arterial hypertension | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2007-02 | |
| Hereditary hemorrhagic telangiectasia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2007-02 | |
| Hereditary Hemorrhagic Telangiectasia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2024-03-24 |
| Hereditary Hemorrhagic Telangiectasia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2024-03-24 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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