Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease BEFREE We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene. 23313019 2013
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease UNIPROT A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. 15099592 2004
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease UNIPROT Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. 12578939 2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease BEFREE A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 10330345 1999
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 GeneticVariation disease UNIPROT A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 10330345 1999
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 Biomarker disease MGD
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 Biomarker disease CTD_human
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.920 CausalMutation disease CLINVAR