×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
Biomarker
disease
CTD_human
×
Entrez Id:
9896
Gene Symbol:
FIG4
FIG4
0.300
Biomarker
disease
CTD_human
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
17572665
2007
SLC25A46
0.300
Biomarker
disease
CTD_human
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
26168012
2015
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
0.300
Biomarker
disease
CTD_human
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels.
17303424
2007
×
Entrez Id:
22880
Gene Symbol:
MORC2
MORC2
0.300
Biomarker
disease
CTD_human
Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.
28581500
2017
×
Entrez Id:
90678
Gene Symbol:
LRSAM1
LRSAM1
0.300
Biomarker
disease
CTD_human
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
20865121
2010
×
Entrez Id:
3236
Gene Symbol:
HOXD10
HOXD10
0.300
Biomarker
disease
CTD_human
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
15146389
2004
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
0.300
Biomarker
disease
CTD_human
Myoclonic seizures in a patient with Charcot-Marie-tooth disease.
17275665
2007
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
0.300
Biomarker
disease
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:
59341
Gene Symbol:
TRPV4
TRPV4
0.300
Biomarker
disease
CTD_human
Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.
22187434
2012
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
10737979
2000
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B .
7693130
1993
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
7693129
1993
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
15036333
2004
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
10214757
1999
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
12402337
2002
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Novel mutation of the myelin P0 gene in a CMT1B family.
8990016
1997
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
8797476
1996
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
8835320
1995
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
12497641
2003
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ , P0) that plays a fundamental role in adhesion and compaction of peripheral myelin.
12845552
2003
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).
9452099
1998
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Clinical and genetic analysis of CMT1B in a Nigerian family.
12707985
2003
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
11445635
2001
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
1.000
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
8844219
1996