Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
0.010 GeneticVariation BEFREE The Cx31 mutants (R42P)Cx31, (C86S)Cx31 and (G12D)Cx31 are associated with EKV and the mutant (66delD)Cx31 with peripheral neuropathy and hearing loss, however the mechanisms of pathogenesis remain to be elucidated. 19755382 2009