Genopathy
Gene-Disorder Association · Article
Gene
WBP11
WW Domain Binding Protein 11
Disorder
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
First reported 2010
Supporting publications 1
Key publication · disorder Effect of (-)-Delta(9)-tetrahydrocannabinoid on the hepatic redox state of mice.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2010
Manually curated
Association Review

In brief

The association between WBP11 (WW Domain Binding Protein 11) and Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 14
Symptoms 73
Compounds 0
Trials 0
Publications 1
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
WBP11

The gene

1 source summary

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

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04
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects

The disorder

5 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

28 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

14 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

1 publication

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

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09
Provenance

References & sources

5 references

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

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