Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. 20739940

2010

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 CausalMutation CLINVAR

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. 15992829

2005

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

1997

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Other mutations of the myelin protein PMP22 and myelin protein P0 genes have been associated with the clinical syndrome known as Dejerine-Sottas disease. 8881991

1996

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 GeneticVariation BEFREE In 5 cases showing neither duplication, deletion, nor a point mutation in the exons of the PMP-22 gene on heteroduplex DNA analysis, the histopathological findings strongly suggested a diagnosis of chronic inflammatory demyelinating polyneuropathy in 2 cases, and HMSN Ib, or HMSN non-a non-b, and HMSN III in 3 cases. 9678509

1998

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Dominant mutations in two major peripheral myelin protein genes, PMP22 and Po, are associated with a DSS phenotype. 8956034

1996

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Missense point mutations in Gas3/PMP22 are responsible for the peripheral neuropathies Charcot-Marie-Tooth 1A and Dejerine Sottas syndrome. 15537650

2005

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 Biomarker MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228

1997

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

1997

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation UNIPROT Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. 9187667

1997

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 de novo dominant point mutation of the PMP22 gene. 7675244

1995

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings. 11355152

2001

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 Biomarker MGD 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: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation UNIPROT Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. 8252046

1993

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. 7728152

1995

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 BEFREE Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII), is a severe, infantile-onset, demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP22 gene or the P0 gene and shares considerable clinical and pathologic features with CMT1. 11345007

2001

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE Here, a sporadic patient affected with DSS is described; nerve biopsy disclosed a picture of hypomyelination/amyelination with basal laminae onion bulbs and no florid demyelination and it was consistent with congenital hypomyelination neuropathy (CHN); molecular analysis disclosed a novel point mutation of PMP22 that causes a non-conservative arginine for cysteine substitution at codon 109, in the third transmembrane domain. 11118262

2001

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation BEFREE These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22. 8275092

1993

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 Biomarker MGD Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? 15363066

2004

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
1.000 GeneticVariation UNIPROT These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22. 8275092

1993