Genopathy
Gene-Disorder Association · Article
Gene
CASQ1
Calsequestrin 1
Disorder
Myopathy
First reported 2010
Key publication · gene–disorder Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role?Clinical ophthalmology (Auckland, N.Z.) · 2010
Key publication · disorder Effects of vitamin E deficiency and cod liver oil on myopathy in mice.Archives of pathology · 1950
Manually curated
Association Review

In brief

The association between CASQ1 (Calsequestrin 1) and Myopathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 13
Compounds 0
Trials 0
Publications 0
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
CASQ1

The gene

1 source summary

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

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04
Myopathy

The disorder

10 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

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06
Provenance

References & sources

4 references

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

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