Genopathy
Gene-Disorder Association · Article
Gene
FGFR1
Fibroblast Growth Factor Receptor 1
Disorder
Osteochondrodysplasia
First reported 2000
Supporting publications 2
Key publication · gene–disorder Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.American journal of medical genetics · 2000
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 FGFR1 (Fibroblast Growth Factor Receptor 1) and Osteochondrodysplasia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
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
Literature

Reading

2 publications

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

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06
Provenance

References & sources

6 references

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

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