Genopathy
Gene-Disorder Association · Article
Gene
FGD1
FYVE, RhoGEF And PH Domain Containing 1
First reported 1973
Supporting publications 21
Manually curated
Association Review

In brief

The association between FGD1 (FYVE, RhoGEF And PH Domain Containing 1) and Aarskog Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 77
Symptoms 0
Compounds 0
Trials 0
Publications 21
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
FGD1

The gene

1 source summary

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

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04
Aarskog Syndrome

The disorder

2 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

77 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

21 publications

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

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07
Provenance

References & sources

11 references

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

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