Gene: PMP22 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Molecular and clinical features of inherited neuropathies due to PMP22 duplication. 26076881 2015
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience. 24726093 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. 24646194 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation. 24534835 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. 24668782 2014
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. 23781966 2013
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR The PMP22 gene and its related diseases. 23224996 2013
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889 2011
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome. 18592125 2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR 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 		0.100 CausalMutation phenotype CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 12439896 2002
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. 11523566 2001
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. 10369870 1999
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. 10211478 1999
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. 9543325 1998
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR 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 		0.100 CausalMutation phenotype CLINVAR Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation. 7728152 1995
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. 8275092 1993
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 CausalMutation phenotype CLINVAR [The reflexotherapy of patients with respiratory allergoses]. 1523566 1992
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.100 Biomarker phenotype HPO