Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.020 GeneticVariation BEFREE Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T. 30605594 2019
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.020 GeneticVariation BEFREE Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. 11376188 2001