Genopathy
Gene-Disorder Association · Article
Gene
FGFR3
Fibroblast Growth Factor Receptor 3
Disorder
Bone Disease
First reported 1996
Supporting publications 18
Key publication · gene–disorder Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.American journal of medical genetics · 1996
Key publication · disorder Multiple myeloma. II. Variability of roentgen appearance and effect of urethane therapy on skeletal disease.The American journal of roentgenology and radium therapy · 1950
Manually curated
Association Review

In brief

The association between FGFR3 (Fibroblast Growth Factor Receptor 3) and Bone Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
Compounds 0
Trials 0
Publications 18
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
FGFR3

The gene

3 source summaries

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

Request access
04
Bone Disease

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Mechanism overlap

Shared mechanisms

1 shared pathway

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

Request access
06
Literature

Reading

18 publications

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

Request access
07
Provenance

References & sources

14 references

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

Request access