rs587777425, DCAF8

N. diseases: 3
Disease: Hereditary Motor and Sensory Neuropathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory Neuropathies
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
0.010 GeneticVariation BEFREE Our results indicate that DCAF8 p.R317C mutation is responsible for this specific variety of HMSN2 with infrequent giant axons and mild cardiomyopathy. 24500646 2014