Genopathy
Gene-Disorder Association · Article
Gene
FGFR1
Fibroblast Growth Factor Receptor 1
Disorder
Bone Disease
First reported 1994
Supporting publications 1
Key publication · gene–disorder A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.Nature genetics · 1994
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 FGFR1 (Fibroblast Growth Factor Receptor 1) and Bone Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
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

1 source

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

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03
FGFR1

The gene

3 source summaries

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

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04
Bone Disease

The disorder

10 database identifiers

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

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05
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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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

7 references

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

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