Gene: PMP22 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. 11140841

2000
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. 10489052

1999
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. 9040744

1997
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. 8655153

1996
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. 8615087

1995
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation]. 8777804

1995
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. 8510709

1993
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. 8252046

1993
dbSNP: rs104894625
rs104894625
PMP22
0.810 GeneticVariation UNIPROT Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. 1303281

1992
dbSNP: rs104894625
rs104894625
PMP22
A 0.810 CausalMutation CLINVAR

dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894618
rs104894618
PMP22
0.800 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004
dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
dbSNP: rs104894618
rs104894618
PMP22
0.800 GeneticVariation UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs104894618
rs104894618
PMP22
0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs104894618
rs104894618
PMP22
0.800 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. 11140841

2000
dbSNP: rs104894617
rs104894617
PMP22
0.800 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000