PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Dejerine-Sottas Disease (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732 2013
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
dbSNP: rs797045102
rs797045102
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		G 0.700 GeneticVariation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001