Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 Biomarker MGD Aggregates containing ubiquitin and peripheral myelin protein 22 (PMP22) have been observed in the Trembler J mouse model of Charcot-Marie-Tooth disease type 1A demyelinating neuropathy. 15748170

2005
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 Biomarker MGD Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. 15703401

2005
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 Biomarker MGD Functionally, the trembler-j is a good murine model for CMT1A associated with an identical point mutation but may represent a more severe disease phenotype than CMT1A secondary to PMP-22 gene duplication. 15363066

2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 Biomarker MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228

1997