Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
0.110 GeneticVariation disease BEFREE By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p.Arg442His in an Algerian patient and p.Met566Ile in a Lebanese girl. 22734899 2012
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
0.110 CausalMutation disease CLINVAR Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. 17564972 2007
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
0.110 CausalMutation disease CLINVAR Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. 17564959 2007