Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 16326826 2005
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 CausalMutation disease CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644 2003
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.120 GeneticVariation disease CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644 2003
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 CausalMutation disease CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647 2000
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 GeneticVariation disease CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647 2000
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672 2017
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
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: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 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
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949 2004
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.110 GeneticVariation disease BEFREE Mutations in the ganglioside-induced differentiation-associated protein 1 gene cause either autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A or autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis. 14561495 2003
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 12112076 2002
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 GeneticVariation disease BEFREE Mutations in the Periaxin (PRX) gene are known to cause autosomal recessive demyelinating Charcot-Marie-Tooth (CMT4F) and Dejerine-Sottas disease. 12090399 2002
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Genetic heterogeneity of motor neuropathies. 28251916 2017
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 81846
Gene Symbol: SBF2
SBF2 		0.100 CausalMutation disease CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783 2014
Entrez Id: 283104
Gene Symbol: SBF2-AS1
SBF2-AS1 		0.100 CausalMutation disease CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783 2014
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 24878229 2014