Genopathy
Gene-Disorder Association · Article
Gene
ACVRL1
Activin A Receptor Like Type 1
Disorder
Vascular Disease
First reported 1997
Supporting publications 14
Key publication · gene–disorder The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.American journal of human genetics · 1997
Key publication · disorder Pheochromocytoma and essential hypertensive vascular disease.A.M.A. archives of internal medicine · 1950
Manually curated
Association Review

In brief

The association between ACVRL1 (Activin A Receptor Like Type 1) and Vascular Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 7
Compounds 0
Trials 0
Publications 14
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
ACVRL1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Vascular Disease

The disorder

16 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

14 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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