Genopathy
Gene-Disorder Association · Article
Gene
ATP2A1-AS1
ATP2A1 Antisense RNA 1
Disorder
Brody Disease
First reported 1996
Supporting publications 4
Key publication · gene–disorder Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.Nature genetics · 1996
Key publication · disorder [Report on the results of artificial insemination in the Havlickuv Brod center in 1949].Casopis ceskoslovenskych veterinaru · 1950
Manually curated
Association Review

In brief

The association between ATP2A1-AS1 (ATP2A1 Antisense RNA 1) and Brody Disease is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 39
Symptoms 28
Compounds 0
Trials 0
Publications 4
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
ATP2A1-AS1

The gene

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

Request access
04
Brody Disease

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

16 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

39 clinical variants

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

Request access
07
Literature

Reading

4 publications

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

Request access
08
Provenance

References & sources

8 references

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

Request access