Genopathy
Gene-Disorder Association · Article
Gene
TOR1AIP1
Torsin 1A Interacting Protein 1
Disorder
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
First reported 1974
Supporting publications 6
Key publication · disorder Correspondence: Operating room flash fire.Anesthesia and analgesia · 1974
Manually curated
Association Review

In brief

The association between TOR1AIP1 (Torsin 1A Interacting Protein 1) and Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 3
Clinical variants 397
Symptoms 37
Compounds 0
Trials 0
Publications 6
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

3 sources

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

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03
TOR1AIP1

The gene

1 source summary

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

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04
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

The disorder

7 database identifiers

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

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05
Phenotype

Clinical features

16 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

397 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

6 publications

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

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09
Provenance

References & sources

12 references

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

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