Entrez Id: |
54332 |
Gene Symbol: |
GDAP1 |
GDAP1
|
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
|
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
|
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
|
Charcot-Marie-Tooth Disease
|
0.680 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
59341 |
Gene Symbol: |
TRPV4 |
TRPV4
|
Charcot-Marie-Tooth Disease
|
0.430 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
79628 |
Gene Symbol: |
SH3TC2 |
SH3TC2
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Charcot-Marie-Tooth Disease
|
0.400 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
23095 |
Gene Symbol: |
KIF1B |
KIF1B
|
Charcot-Marie-Tooth Disease
|
0.400 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
2705 |
Gene Symbol: |
GJB1 |
GJB1
|
Charcot-Marie-Tooth Disease
|
0.400 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
1778 |
Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
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
|
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
|
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
|
Charcot-Marie-Tooth Disease
|
0.200 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |