Gene: FGD1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). 21654724

2011
dbSNP: rs28935497
rs28935497
FGD1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). 21654724

2011
dbSNP: rs137853264
rs137853264
FGD1
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
FGD1
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: rs137853264
rs137853264
FGD1
0.800 GeneticVariation UNIPROT Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. 11093277

2000
dbSNP: rs137853264
rs137853264
FGD1
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
FGD1
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
FGD1
0.800 GeneticVariation UNIPROT Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. 11093277

2000