rs797045102, PRX

N. diseases: 1
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)
0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. 24078732 2013
Dejerine-Sottas Disease (disorder)
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
0.700 GeneticVariation 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)
0.700 GeneticVariation 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)
0.700 GeneticVariation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001