rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.
8969170
1996
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
24307393
2014
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
TG
0.700
CausalMutation
CLINVAR
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
20082460
2010
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
22211847
2012
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
TG
0.700
GeneticVariation
CLINVAR
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
16688726
2006
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
19110080
2009
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
T
0.700
CausalMutation
CLINVAR
rs756586058
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Multiple congenital anomalies
T
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
rs387906718
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
A
0.700
CausalMutation
CLINVAR
rs28935498
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
A
0.700
CausalMutation
CLINVAR
rs28935498
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
0.800
GeneticVariation
UNIPROT
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
11093277
2000
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
T
0.800
CausalMutation
CLINVAR
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
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
rs28935497
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
21654724
2011
rs1569541255
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
AG
0.700
CausalMutation
CLINVAR
rs1557191567
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
TA
0.700
GeneticVariation
CLINVAR
rs1557189608
×
Entrez Id:
2245
Gene Symbol:
FGD1
FGD1
Aarskog syndrome
CA
0.700
GeneticVariation
CLINVAR