PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894707
rs104894707
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation BEFREE Despite early disease onset, these siblings with the C715X mutation had relatively slow disease progression and adult motor impairment typical of classic demyelinating Charcot-Marie-Tooth neuropathy. 12112076 2002