rs774005786, PARK7

N. diseases: 8
Disease: Young onset Parkinson disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
0.020 GeneticVariation BEFREE Loss-of-function mutations such as L166P, A104T, and M26I in the DJ-1 gene (PARK7) have been linked to autosomal-recessive early onset Parkinson's disease (PD). 20527929 2010
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
0.020 GeneticVariation BEFREE A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. 15254937 2004