PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: Charcot-Marie-Tooth disease type 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
dbSNP: rs1301129751
rs1301129751
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4 		GA 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004