Genopathy
Gene-Disorder Association · Article
Gene
SETX
Senataxin
Disorder
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
First reported 2004
Supporting publications 40
Key publication · gene–disorder Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Nature genetics · 2004
Key publication · disorder [Ultrasonography of the orbit by way of A-scan. 2. Diagnosis of exophthalmos].Klinika oczna · 1975
Manually curated
Association Review

In brief

The association between SETX (Senataxin) and Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1,388
Symptoms 74
Compounds 0
Trials 0
Publications 40
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

5 sources

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

Request access
03
SETX

The gene

1 source summary

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

Request access
04
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

46 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

1,388 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

40 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access