Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker 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: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136

2018

Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 25860513

2015

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649

2015

Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. 25152455

2014

Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker 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: 121512
Gene Symbol: FGD4
FGD4
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. 23171661

2012

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 22689911

2012

Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779

2012

Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Ndrg1 in development and maintenance of the myelin sheath. 21303696

2011

Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. 22144914

2011

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508

2009

Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. 19470612

2009

Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. 19805030

2009

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy. 18326085

2008

Entrez Id: 81846
Gene Symbol: SBF2
SBF2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 18349142

2008

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker 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: 9896
Gene Symbol: FIG4
FIG4
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007

Entrez Id: 81846
Gene Symbol: SBF2
SBF2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448

2007

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 17701891

2007

Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 16982418

2006

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Nab proteins are essential for peripheral nervous system myelination. 16136673

2005

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. 15703401

2005

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy
0.200 Biomarker MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336

2005