Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1959
Gene Symbol: EGR2
EGR2 		0.100 CausalMutation disease CLINVAR
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
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 23489662 2013
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: 9896
Gene Symbol: FIG4
FIG4 		0.100 GeneticVariation disease CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
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
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Novel FIG4 mutations in Yunis-Varon syndrome. 24088667 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 18556664 2008
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420 2011
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.100 CausalMutation disease CLINVAR Genetic heterogeneity of motor neuropathies. 28251916 2017
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: 54332
Gene Symbol: GDAP1
GDAP1 		0.110 CausalMutation disease CLINVAR
Entrez Id: 4099
Gene Symbol: MAG
MAG 		0.010 GeneticVariation disease BEFREE Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. 10848494 2000
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.010 Biomarker disease BEFREE We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. 22028665 2011
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 GeneticVariation disease BEFREE To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. 23749797 2013
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: 8898
Gene Symbol: MTMR2
MTMR2 		0.120 Biomarker disease BEFREE We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. 22028665 2011
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1 		0.100 CausalMutation disease CLINVAR Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 23996628 2013
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1 		0.100 CausalMutation disease CLINVAR Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. 12872253 2003
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001
Entrez Id: 57716
Gene Symbol: PRX
PRX 		0.110 CausalMutation disease CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949 2004