Genopathy
Gene-Disorder Association · Article
Gene
FGFR1
Fibroblast Growth Factor Receptor 1
Disorder
Hartsfield-Bixler-Demyer Syndrome
First reported 2006
Supporting publications 5
Key publication · disorder Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).Molecular and cellular endocrinology · 2006
Manually curated
Association Review

In brief

The association between FGFR1 (Fibroblast Growth Factor Receptor 1) and Hartsfield-Bixler-Demyer Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 167
Symptoms 0
Compounds 0
Trials 0
Publications 5
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

2 sources

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

Request access
03
FGFR1

The gene

3 source summaries

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

Request access
04
Hartsfield-Bixler-Demyer Syndrome

The disorder

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

Request access
05
ClinVar and variant evidence

Genetic basis

167 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

5 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access