Genopathy
Gene-Disorder Association · Article
Gene
PKD1
Polycystin 1, Transient Receptor Potential Channel Interacting
Disorder
Tuberous Sclerosis 2
First reported 1999
Supporting publications 8
Key publication · gene–disorder Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.American journal of human genetics · 1999
Key publication · disorder Tuberous sclerosis, a neurocutaneous syndrome; report of a case.Radiology · 1950
Manually curated
Association Review

In brief

The association between PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) and Tuberous Sclerosis 2 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 21
Symptoms 75
Compounds 0
Trials 0
Publications 8
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
PKD1

The gene

1 source summary

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

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04
Tuberous Sclerosis 2

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

38 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

21 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

8 publications

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

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09
Provenance

References & sources

14 references

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

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