Genopathy
Gene-Disorder Association · Article
Gene
FGFR2
Fibroblast Growth Factor Receptor 2
Disorder
Craniosynostosis
First reported 1994
Supporting publications 86
Key publication · gene–disorder Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.Nature genetics · 1994
Key publication · disorder Craniostenosis and vitamin D resistant rickets.Acta paediatrica · 1951
Manually curated
Association Review

In brief

The association between FGFR2 (Fibroblast Growth Factor Receptor 2) and Craniosynostosis is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 103
Symptoms 0
Compounds 0
Trials 0
Publications 86
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
FGFR2

The gene

3 source summaries

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

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04
Craniosynostosis

The disorder

9 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

103 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

86 publications

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

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07
Provenance

References & sources

14 references

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

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