Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease CTD_human
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease GENOMICS_ENGLAND
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: 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: 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 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 somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. 11445635 2001
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: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. 17303424 2007
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 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991 2001
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 Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 12207932 2002
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
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 Clinical and genetic analysis of CMT1B in a Nigerian family. 12707985 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 8816708 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 12221176 2002
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 Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 12477701 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304 2008
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800 2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. 16488608 2006
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