Genopathy
Gene-Disorder Association · Article
Gene
TIA1
TIA1 Cytotoxic Granule Associated RNA Binding Protein
Disorder
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
First reported 2010
Key publication · disorder EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.European journal of neurology · 2010
Manually curated
Association Review

In brief

The association between TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein) and Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 3
Clinical variants 5
Symptoms 23
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

3 sources

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

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03
TIA1

The gene

1 source summary

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

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04
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia

The disorder

6 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

8 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

5 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
Provenance

References & sources

6 references

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

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