Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 CausalMutation 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 CausalMutation 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 CausalMutation 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.680 CausalMutation CLINVAR

Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 CausalMutation CLINVAR

Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation 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: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590

2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281

2008
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation 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: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 CausalMutation CLINVAR

Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 GeneticVariation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.390 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.390 CausalMutation CLINVAR Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 21820100

2011
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014