Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common heritable peripheral neuropathy and results from a duplication on chromosome 17 that results in an extra copy and increased dosage of peripheral myelin protein 22 (PMP22). 29199996 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 AlteredExpression group BEFREE We have created a transcriptome-wide searchable database for easy access to the gene expression data resulting from the cerebrocortical drug screen (Neuron Screen) and have mined this data to identify a novel link between thyroid hormone and expression of the peripheral neuropathy associated gene Pmp22. 29901742 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 Biomarker group BEFREE Our findings suggest that arsenic exposure alters the expression of SA-miRs and the mir-29a/beta catenin/PMP22 axis might be responsible for arsenic induced PN. 29107899 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. 28382305 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. 27386852 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE A major cause of peripheral neuropathy is a copy number variant involving the Peripheral Myelin Protein 22 (PMP22) gene, which is located within a 1.4-Mb duplication on chromosome 17 associated with the most common form of Charcot-Marie-Tooth Disease (CMT1A). 27288457 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 Biomarker group BEFREE Copy number variation resulting in excess PMP22 protein causes the peripheral neuropathy Charcot-Marie-Tooth disease, type 1A. 25188731 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE Rare copy number variations by the nonrecurrent rearrangements involving PMP22 have been recently suggested to be associated with CMT1A peripheral neuropathy. 21193943 2011
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE Mutations in peripheral myelin protein 22 (PMP22) can result in the common peripheral neuropathy Charcot-Marie-Tooth disease (CMTD). 21827951 2011
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. 18481175 2009
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 AlteredExpression group BEFREE Increase of pmp22 transcription causes peripheral neuropathy, Charcot-Marie-Tooth disease type1A (CMT1A). 19534778 2009
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. 14502374 2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 GeneticVariation group BEFREE This suggests that large Pmp22 aggregates may be protective in this form of peripheral neuropathy. 12359155 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 AlteredExpression group BEFREE In one transgenic line, the YAC DNA is integrated in about eight copies and the PMP22 gene is strongly expressed to give a peripheral neuropathy closely resembling the human pathology. 8733121 1996
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 Biomarker group BEFREE Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. 8655146 1996