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: rs1269514277
rs1269514277
Entrez Id: 2245;90121
Gene Symbol: FGD1;TSR2
FGD1;TSR2
CUI: C0175701
Disease:
Aarskog syndrome 		A 0.700 GeneticVariation CLINVAR
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: 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: rs137853265
rs137853265
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.010 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: 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
dbSNP: rs137853267
rs137853267
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0266464
Disease:
Polymicrogyria 		0.010 GeneticVariation BEFREE M466V was not found in healthy family members, in >300 healthy controls and AAS patients, and has not been reported in the literature or mutation databases to date, indicating that this novel missense mutation causes AAS, and possibly PMG. 17847065 2007
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