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

N. diseases: 131; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557189252
rs1557189252
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557189252
rs1557189252
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557189455
rs1557189455
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR 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: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170 1996
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. 19110080 2009
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 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
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460 2010
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997 2005
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR 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: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. 19110080 2009
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847 2012
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460 2010
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847 2012
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997 2005
dbSNP: rs1557189592
rs1557189592
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170 1996