Genopathy
Gene-Disorder Association · Article
Gene
WT1
WT1 Transcription Factor
Disorder
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
First reported 1992
Supporting publications 82
Key publication · gene–disorder Inactivation of the remaining allele of the WT1 gene in a Wilms' tumour from a WAGR patient.Oncogene · 1992
Key publication · disorder ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.The New England journal of medicine · 1964
Manually curated
Association Review

In brief

The association between WT1 (WT1 Transcription Factor) and Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants.

Sources 3
Clinical variants 1,390
Symptoms 34
Compounds 0
Trials 0
Publications 82
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
WT1

The gene

2 source summaries

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

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04
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome

The disorder

13 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

29 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

1,390 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

82 publications

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

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09
Provenance

References & sources

17 references

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

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