Genopathy
Gene-Disorder Association · Article
Gene
PHF6
PHD Finger Protein 6
Disorder
Body Mass Index Quantitative Trait Locus 11
First reported 2007
Key publication · gene–disorder Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.Gene expression patterns : GEP · 2007
Key publication · disorder [Lipogenic and antilipogenic hormonal factors as a cause of endogenous adiposis].Anales de la Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay · 1950
Manually curated
Association Review

In brief

The association between PHF6 (PHD Finger Protein 6) and Body Mass Index Quantitative Trait Locus 11 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 6
Compounds 0
Trials 0
Publications 0
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
PHF6

The gene

1 source summary

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

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04
Body Mass Index Quantitative Trait Locus 11

The disorder

13 database identifiers

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

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05
Phenotype

Clinical features

3 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

4 references

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

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