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: C3540453
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
A 0.700 CausalMutation CLINVAR Periaxin mutations cause recessive Dejerine-Sottas neuropathy. 11133365 2001