rs587777425, DCAF8

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
CUI: C4013360
Disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. 24500646 2014
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
CUI: C4013360
Disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
0.800 CausalMutation CLINVAR
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
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
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