Gene: FGD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393 2014
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393 2014
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847 2012
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. 22211847 2012
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460 2010
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. 20082460 2010
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. 19110080 2009
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. 19110080 2009
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997 2005
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 Biomarker disease BEFREE We suggest that FGD1 analysis may be adequate in ADHD patients who exhibit dysmorphic features suggestive of AAS, also in the absence of the full phenotypical spectrum. 15809997 2005
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997 2005
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease 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
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease 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
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 GeneticVariation disease CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170 1996
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.110 CausalMutation disease CLINVAR The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. 8969170 1996