rs1568704829, PRX

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842 2016
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 16770524 2006
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
0.700 CausalMutation CLINVAR Clinicopathological and genetic study of early-onset demyelinating neuropathy. 15469949 2004