Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease MGD A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. 30239779 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease MGD MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 22689911 2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease MGD Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy. 18326085 2008
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 GermlineCausalMutation disease ORPHANET The Roussy-Lévy family: from the original description to the gene. 10553995 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 GeneticVariation disease UNIPROT The Roussy-Lévy family: from the original description to the gene. 10553995 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease MGD Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 7581451 1995
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease MGD Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. 1384988 1992
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 CausalMutation disease CLINVAR
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.900 Biomarker disease CTD_human
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 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 		0.800 GermlineCausalMutation disease ORPHANET A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 18592125 2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones. 17174099 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 17701891 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease CTD_human Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. 17303424 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. 15748170 2005
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. 15703401 2005
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? 15363066 2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 GermlineCausalMutation disease ORPHANET Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. 9543325 1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228 1997
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.500 Biomarker disease MGD Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease. 23519028 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.500 Biomarker disease MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779 2012