Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2953
Gene Symbol: GSTT2
GSTT2 		0.210 ModifyingMutation disease RGD Our data suggest that the combination of age and cutaneous messenger RNA levels of glutathione S-transferase theta 2 and cathepsin A composes a strong indicator of disease severity in patients with Charcot-Marie-Tooth 1A, as quantified by the Charcot-Marie-Tooth Neuropathy Score. 22189569 2012
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.700 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.700 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 CausalMutation disease CLINVAR
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.430 CausalMutation disease CLINVAR
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.400 CausalMutation disease CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.400 CausalMutation disease CLINVAR
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		0.400 CausalMutation disease CLINVAR
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 CausalMutation disease CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.400 CausalMutation disease CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318 2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 CausalMutation disease CLINVAR The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 19272779 2009
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 CausalMutation disease CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012 2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 CausalMutation disease CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281 2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.400 CausalMutation disease CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889 2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.400 CausalMutation disease CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		0.400 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: 9927
Gene Symbol: MFN2
MFN2 		0.400 CausalMutation disease CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138 2011
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.390 CausalMutation disease CLINVAR Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 21820100 2011
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.200 CausalMutation disease CLINVAR Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. 22031878 2011
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.200 CausalMutation disease CLINVAR We observed the additional HSPB1 mutations in four families with distal HMN and in one individual with CMT neuropathy. 15122254 2004
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.200 CausalMutation disease CLINVAR
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.200 CausalMutation disease CLINVAR Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. 20660910 2010
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		0.200 CausalMutation disease CLINVAR Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 20178975 2010