DisGeNET - a database of gene-disease associations

FGD1, FYVE, RhoGEF and PH domain containing 1, 2245

N. diseases: 131; N. variants: 15

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:

rs137853264

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

21654724

2011

dbSNP:

rs28935497

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

21654724

2011

dbSNP:

rs137853264

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

14560308

2004

dbSNP:

rs28935497

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

14560308

2004

dbSNP:

rs137853264

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

10930571

2000

dbSNP:

rs137853264

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

11093277

2000

dbSNP:

rs28935497

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

11093277

2000

dbSNP:

rs28935497

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

GeneticVariation

UNIPROT

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

10930571

2000

dbSNP:

rs137853264

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs28935497

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs137853265

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.710

GeneticVariation

BEFREE

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

15809997

2005

dbSNP:

rs137853265

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0175701
Disease:

Aarskog syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs137853266

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

24307393

2014

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

24307393

2014

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

24307393

2014

dbSNP:

rs756586058

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

24307393

2014

dbSNP:

rs137853266

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

22211847

2012

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

22211847

2012

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

22211847

2012

dbSNP:

rs756586058

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

22211847

2012

dbSNP:

rs137853266

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

20082460

2010

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

20082460

2010

dbSNP:

rs1557189592

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

20082460

2010

dbSNP:

rs756586058

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0000772
Disease:

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

20082460

2010

dbSNP:

rs137853266

Entrez Id:	2245
Gene Symbol:	FGD1

FGD1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

19110080

2009