Genopathy
Gene-Disorder Association · Article
Gene
ACTA2-AS1
ACTA2 Antisense RNA 1
Disorder
Aortic Aneurysm, Familial Thoracic 6
First reported 2017
Supporting publications 17
Key publication · gene–disorder Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts.Proceedings of the National Academy of Sciences of the United States of America · 2017
Key publication · disorder Iris flocculi and familial aortic dissection.Archives of ophthalmology (Chicago, Ill. : 1960) · 1995
Manually curated
Association Review

In brief

The association between ACTA2-AS1 (ACTA2 Antisense RNA 1) and Aortic Aneurysm, Familial Thoracic 6 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 157
Symptoms 11
Compounds 0
Trials 0
Publications 17
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
ACTA2-AS1

The gene

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

Request access
04
Aortic Aneurysm, Familial Thoracic 6

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

9 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

157 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Literature

Reading

17 publications

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

Request access
08
Provenance

References & sources

11 references

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

Request access