Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045102
rs797045102
PRX
G 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732

2013

dbSNP: rs797045102
rs797045102
PRX
G 0.700 GeneticVariation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185

2010

dbSNP: rs797045102
rs797045102
PRX
G 0.700 GeneticVariation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604

2004

dbSNP: rs797045102
rs797045102
PRX
G 0.700 GeneticVariation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365

2001