Genopathy
Gene-Disorder Association · Article
Gene
GTF2I
General Transcription Factor IIi
Disorder
Williams-Beuren Syndrome
First reported 1998
Supporting publications 7
Key publication · gene–disorder A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.Human molecular genetics · 1998
Key publication · disorder [Chronic hyperglycemia, combined with osteosclerosis, hyperazotemia, nanism and congenital malformations].Helvetica paediatrica acta · 1952
Manually curated
Association Review

In brief

The association between GTF2I (General Transcription Factor IIi) and Williams-Beuren Syndrome is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 302
Compounds 0
Trials 0
Publications 7
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
GTF2I

The gene

1 source summary

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

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04
Williams-Beuren Syndrome

The disorder

11 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

233 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

7 publications

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

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08
Provenance

References & sources

18 references

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

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