×
Entrez Id:
23064
Gene Symbol:
SETX
SETX
Charcot-Marie-Tooth Disease
0.300
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
SLC25A46
Charcot-Marie-Tooth Disease
0.300
Biomarker
CTD_human
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
26168012
2015
×
Entrez Id:
9517
Gene Symbol:
SPTLC2
SPTLC2
Charcot-Marie-Tooth Disease
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
20920666
2010
×
Entrez Id:
10558
Gene Symbol:
SPTLC1
SPTLC1
Charcot-Marie-Tooth Disease
0.310
Biomarker
GENOMICS_ENGLAND
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
30420926
2018
×
Entrez Id:
3236
Gene Symbol:
HOXD10
HOXD10
Charcot-Marie-Tooth Disease
0.320
Biomarker
CTD_human
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
15146389
2004
×
Entrez Id:
22880
Gene Symbol:
MORC2
MORC2
Charcot-Marie-Tooth Disease
0.360
Biomarker
CTD_human
These data define a critical role for MORC2 in epigenetic silencing by the HUSH complex and provide a mechanistic basis underpinning the role of MORC2 mutations in CMT disease.
28581500
2017
×
Entrez Id:
59341
Gene Symbol:
TRPV4
TRPV4
Charcot-Marie-Tooth Disease
0.430
Biomarker
CTD_human
Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.
22187434
2012
×
Entrez Id:
9896
Gene Symbol:
FIG4
FIG4
Charcot-Marie-Tooth Disease
0.600
Biomarker
CTD_human
This novel form of autosomal recessive Charcot-Marie-Tooth disorder is designated CMT4J .
17572665
2007
×
Entrez Id:
90678
Gene Symbol:
LRSAM1
LRSAM1
Charcot-Marie-Tooth Disease
0.680
Biomarker
CTD_human
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease .
20865121
2010
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
CTD_human
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.
19427269
2009
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
CTD_human
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
17275665
2007
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
Charcot-Marie-Tooth Disease
0.700
Biomarker
CTD_human
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
17303424
2007
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
Charcot-Marie-Tooth Disease
0.700
Biomarker
CTD_human
×
Entrez Id:
54332
Gene Symbol:
GDAP1
GDAP1
Charcot-Marie-Tooth Disease
0.700
Biomarker
GENOMICS_ENGLAND