Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894714
rs104894714
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4
A 0.700 CausalMutation CLINVAR Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 15197604 2004
dbSNP: rs104894714
rs104894714
Entrez Id: 57716
Gene Symbol: PRX
PRX
CUI: C4082197
Disease:
Charcot-Marie-Tooth disease type 4
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001