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: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 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: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 GermlineCausalMutation 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
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 Biomarker CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665

2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 Biomarker CTD_human Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. 17303424

2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 GermlineCausalMutation 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
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 Biomarker GENOMICS_ENGLAND