Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). 31713617 2020
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). 30650121 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 AlteredExpression disease BEFREE Heterologous expression of the CMT-associated PMP22_L16P variant, which fails to reach the plasma membrane and localizes to the ER, led to larger currents than WT PMP22. 31213528 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 AlteredExpression disease BEFREE We describe clinical data and detailed pathological analysis mainly by electron microscopy of the sciatic nerves of these animal models conducted in our laboratory; lesions of PMP22 deficient animals (KO and mutated PMP22) and PMP22 overexpressed models are described and compared to ultrastructural anomalies of nerve biopsies from CMT patients due to PMP22 gene anomalies. 30685714 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Trembler J (TrJ) mice carry a spontaneous mutation in peripheral myelin protein 22 (PMP22) and model early-onset, severe CMT type 1E disease. 31386828 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE This platform should be useful in clinical trials for CMT1A as a biomarker of target engagement that can be used to optimize dosing, and the same normalization framework is applicable to other types of CMT.ANN NEUROL 2019;85:887-898. 30945774 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Nerve cross-sectional area (CSA) is larger than normal in Charcot-Marie-Tooth disease 1A (CMT1A), although to a variable extent. 31469427 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE Genetic disruption of Schwann cell-derived NRG1 signalling in a mouse model of Charcot-Marie-Tooth Disease 1A (CMT1A), suppresses hypermyelination and the formation of onion bulbs. 30931926 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE Complete genotyping showed an estimated prevalence of CMT disease of 30.08/100 000 (95% confidence interval [CI] = 26.5;33.9), corresponding mainly (78.5%) to CMT1A (23.6/100 000) and hereditary neuropathy with liability to pressure palsies [HNPP] 17.5%; 5.29/100 000). 30569560 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. 31122831 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Diaphragm weakness in Charcot-Marie-Tooth disease 1A (CMT1A) is usually associated with severe disease manifestation. 31393643 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11.23), Smith-Magenis syndrome (17p11.2), velocardiofacial syndrome (22q11.21), Prader-Willi/Angelman syndromes (15q11.2q12), 17q12 deletion syndrome, and Charcot-Marie-Tooth neuropathy type 1/hereditary neuropathy with liability to pressure palsy (PMP22, 17q11.2). 29691480 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Duplications or deletions of the dosage-sensitive gene PMP22 mapped to chromosome 17p12 represent the most frequent causes of CMT type 1A and Hereditary Neuropathy with liability to Pressure Palsies (HNPP), respectively. 30258273 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE In patients with Charcot-Marie-Tooth disease 1A (CMT1A), peripheral nerves display aberrant myelination during postnatal development, followed by slowly progressive demyelination and axonal loss during adult life. 30072689 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE A combination of three median CSA measures could separate CMT1A from other demyelinating CMTs. 30216910 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE An 18-year-old black African man with well-controlled perinatally acquired HIV-1 was diagnosed in late adolescence with the unrelated diagnoses of Charcot-Marie-Tooth type 1A (CMT1A), epilepsy due to polymicrogyria and subsequently developed severe depression. 30333199 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE The aim of this study was to investigate hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1 A (CMT1A), a common inherited demyelinating neuropathy. 29985472 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Therefore, we outline a general method of employing genome editing to insert reporters into the 3' UTR of a candidate gene, which has been used successfully in our studies of the Pmp22 gene associated with Charcot-Marie-Tooth disease. 29671259 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 Biomarker disease BEFREE Charcot‑Marie‑Tooth type 1A (CMT1A) is a dysmyelinating disease of the peripheral nervous system that results in a slow progressive weakening and wasting of the distal muscles of the upper and lower limbs. 30295677 2018
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). 28286897 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies of Charcot-Marie-Tooth disease. 27609586 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE This study described a novel missense mutation of PMP22 in a Chinese family with CMT phenotype. 28748849 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE This study delineates the clinical and molecular features of PMP22 point mutations in Taiwan, and emphasizes their roles in demyelinating CMT or HNPP-like neuropathy. 29127354 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE These data indicate that selective suppression of the Pmp22 mutant allele by non-viral delivery of siRNA alleviates the demyelinating neuropathic phenotypes of CMT in vivo, implicating allele-specific siRNA treatment as a potent therapeutic strategy for dominantly inherited peripheral neuropathies. 28108290 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.700 GeneticVariation disease BEFREE <i>PMP22</i> genetic alterations cause the most common forms of Charcot-Marie-Tooth disease (CMTD), which is characterized by severe dysmyelination in the peripheral nerves. 28695207 2017