rs104894708, PRX

N. diseases: 5
Disease: Dejerine-Sottas Disease (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 CausalMutation CLINVAR Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. 26059842 2016
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 GeneticVariation BEFREE Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present. 26059842 2016
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150 2012
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 CausalMutation CLINVAR Four novel cases of periaxin-related neuropathy and review of the literature. 21079185 2010
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.710 CausalMutation CLINVAR A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 11157804 2001