DisGeNET - a database of gene-disease associations

PHF6, PHD finger protein 6, 84295

N. diseases: 122; N. variants: 16

Disease: Borjeson-Forssman-Lehmann syndrome ×

Variant: rs1569334260 ×

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:

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