Genopathy
Gene-Disorder Association · Article
Gene
TSC1
TSC Complex Subunit 1
Disorder
Tuberous Sclerosis
First reported 1994
Supporting publications 95
Key publication · gene–disorder 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.Human molecular genetics · 1994
Key publication · disorder Tuberous sclerosis, a neurocutaneous syndrome; report of a case.Radiology · 1950
Manually curated
Association Review

In brief

The association between TSC1 (TSC Complex Subunit 1) and Tuberous Sclerosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 944
Symptoms 10
Compounds 0
Trials 0
Publications 95
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

2 sources

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

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03
TSC1

The gene

1 source summary

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

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04
Tuberous Sclerosis

The disorder

8 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

944 clinical variants

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

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06
Literature

Reading

95 publications

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

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07
Provenance

References & sources

12 references

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

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