DisGeNET - a database of gene-disease associations

PHF6, PHD finger protein 6, 84295

N. diseases: 122; N. variants: 16

Disease: Borjeson-Forssman-Lehmann syndrome ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894917

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs104894917

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

23229552

2013

dbSNP:

rs104894918

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

23229552

2013

dbSNP:

rs104894918

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs104894919

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs104894919

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

23229552

2013

dbSNP:

rs587777489

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.

23229552

2013

dbSNP:

rs587777489

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

23906836

2013

dbSNP:

rs104894917

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

12415272

2002

dbSNP:

rs104894918

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

12415272

2002

dbSNP:

rs104894919

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

12415272

2002

dbSNP:

rs587777489

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

12415272

2002

dbSNP:

rs104894917

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894918

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894919

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs132630298

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs132630298

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs132630299

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

GeneticVariation

UNIPROT

dbSNP:

rs132630299

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777489

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs132630301

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.710

GeneticVariation

BEFREE

We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency.

14714754

2003

dbSNP:

rs132630301

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs1569334260

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.700

GeneticVariation

CLINVAR

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

27633282

2016

dbSNP:

rs132630300

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.700

CausalMutation

CLINVAR

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

15994862

2006

dbSNP:

rs132630300

Entrez Id:	84295
Gene Symbol:	PHF6

PHF6

CUI:	C0265339
Disease:

Borjeson-Forssman-Lehmann syndrome

0.700

CausalMutation

CLINVAR

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

12415272

2002