DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs1556019107 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

27094817

2016

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

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

27633282

2016

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

24092917

2013

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

14756673

2004

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

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

12415272

2002

dbSNP:

rs1556019107

PHF6

0.700

CausalMutation

CLINVAR

An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

13871358

1962