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: rs137853264
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
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: rs137853264
rs137853264
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137853264
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: rs137853264
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
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
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: rs28935497
rs28935497
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28935497
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: rs28935497
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: rs137853265
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
rs137853265
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation 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: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. 19110080 2009
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847 2012
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460 2010
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation 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: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170 1996
dbSNP: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 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: rs137853266
rs137853266
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
dbSNP: rs137853267
rs137853267
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0175701
Disease:
Aarskog syndrome 		C 0.700 CausalMutation CLINVAR