Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
0.020 GeneticVariation BEFREE To understand the underlying mechanisms how the mutations lead to motor neuropathy, we generated transgenic mice with neuron-specific expression of wild-type (tgWT) or N88S/S90L mutant (tgMT) human Seipin. 23470542 2013
Peripheral motor neuropathy
CUI: C0235025
Disease: Peripheral motor neuropathy
0.020 GeneticVariation BEFREE This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations. 19323790 2009