Genopathy
Gene-Disorder Association · Article
Gene
SLITRK1
SLIT And NTRK Like Family Member 1
Disorder
Gilles De La Tourette Syndrome
First reported 2006
Supporting publications 3
Key publication · gene–disorder Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses.Human molecular genetics · 2006
Key publication · disorder [Data on the etiology of Tourette's disease and the problem of regression].Schweizer Archiv fur Neurologie und Psychiatrie. Archives suisses de neurologie et de psychiatrie. Archivio svizzero di neurologia e psichiatria · 1950
Manually curated
Association Review

In brief

The association between SLITRK1 (SLIT And NTRK Like Family Member 1) and Gilles De La Tourette Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 107
Symptoms 25
Compounds 0
Trials 0
Publications 3
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
SLITRK1

The gene

1 source summary

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

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04
Gilles De La Tourette Syndrome

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
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

107 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

3 publications

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

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09
Provenance

References & sources

9 references

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

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