Genopathy
Gene-Disorder Association · Article
Gene
FGFR3
Fibroblast Growth Factor Receptor 3
Disorder
Osteochondrodysplasia
First reported 1996
Supporting publications 43
Key publication · gene–disorder Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.Molecular and cellular biology · 1996
Key publication · disorder [Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia].Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge · 1950
Manually curated
Association Review

In brief

The association between FGFR3 (Fibroblast Growth Factor Receptor 3) and Osteochondrodysplasia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 43
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
FGFR3

The gene

3 source summaries

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

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04
Osteochondrodysplasia

The disorder

14 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

2 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

43 publications

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

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07
Provenance

References & sources

13 references

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

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