Genopathy
Gene-Disorder Association · Article
Gene
CASD1
CAS1 Domain Sialic Acid O Acetyltransferase 1
Disorder
Sgce Myoclonus-Dystonia
First reported 2001
Supporting publications 38
Key publication · gene–disorder Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.Nature genetics · 2001
Key publication · disorder Role of computerized transverse axial tomography on stereotactic surgery of the diencephalon. A preliminary report of 67 cases.Applied neurophysiology · 1976
Manually curated
Association Review

In brief

The association between CASD1 (CAS1 Domain Sialic Acid O Acetyltransferase 1) and Sgce Myoclonus-Dystonia is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 523
Symptoms 0
Compounds 0
Trials 0
Publications 38
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
CASD1

The gene

1 source summary

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

Request access
04
Sgce Myoclonus-Dystonia

The disorder

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

Request access
05
ClinVar and variant evidence

Genetic basis

523 clinical variants

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

Request access
06
Literature

Reading

38 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access