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: 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: 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 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
dbSNP: rs756586058
rs756586058
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
dbSNP: rs28935498
rs28935498
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C1136249
Disease:
Mental Retardation, X-Linked 		0.010 GeneticVariation BEFREE Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. 11940089 2002
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 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 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: 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 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: rs756586058
rs756586058
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 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: 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: 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: 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 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). 15809997 2005
dbSNP: rs756586058
rs756586058
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 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: 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 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 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 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
dbSNP: rs756586058
rs756586058
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation 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 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 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 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006
dbSNP: rs756586058
rs756586058
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. 16688726 2006