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: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		1.000 Biomarker CTD_human High-dose ascorbic acid has been shown to have remyelinating potential and to correct the phenotype of a transgenic mouse model of CMT1A by decreasing expression of PMP22. 19427269

2009
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GermlineCausalMutation ORPHANET Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 18698610

2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 Biomarker CTD_human 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 CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665

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 CTD_human Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. 17303424

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 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		1.000 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

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 GeneticVariation UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		1.000 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GermlineCausalMutation ORPHANET Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 12090401

2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 12090401

2002
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 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
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 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991

2001
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. 10663978

2000
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 GeneticVariation UNIPROT Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. 11140841

2000
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 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. 10211478

1999
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 GeneticVariation UNIPROT The most common cause of Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a PMP22 gene duplication. 10489052

1999
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72. 9585367

1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150. 9544841

1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene. 9452053

1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT A novel PMP22 mutation, deletion of Phe84, was found in one sporadic DSS patient. 9633821

1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		1.000 GeneticVariation UNIPROT This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype. 9748013

1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. 8995589

1997