rs104893875, SNCA

N. diseases: 13
Disease: Pure Autonomic Failure ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pure Autonomic Failure
CUI: C0393911
Disease: Pure Autonomic Failure
0.010 GeneticVariation BEFREE All E46K-SNCA carriers had moderate to severe p-synuclein deposits and small fiber neurodegeneration in different epidermal and dermal structures including nerve fascicles and glands, especially in carriers with Pure Autonomic Failure, while p-synuclein aggregates where absent in healthy controls and in one of two PARK2 carriers. 31178336 2019