Source: UNIPROT

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 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: 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 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 UNIPROT Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. 9004143

1996
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: 1959
Gene Symbol: EGR2
EGR2
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.940 GeneticVariation UNIPROT A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS. 10371530

1999
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: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). 8630052

1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
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 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 Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene. 9452053

1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). 7506095

1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118. 9452055

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 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 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 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 UNIPROT Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. 9055797

1997
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient. 9633821

1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
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 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: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091

1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (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: 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: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		1.000 GeneticVariation UNIPROT The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases. 11596785

2001