Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 Biomarker CTD_human

Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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: 9896
Gene Symbol: FIG4
FIG4
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 Biomarker CTD_human Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. 22187434

2012
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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: 3236
Gene Symbol: HOXD10
HOXD10
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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: 10558
Gene Symbol: SPTLC1
SPTLC1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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: 23064
Gene Symbol: SETX
SETX
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
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