rs28938172, PARK7

N. diseases: 7
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
0.030 GeneticVariation BEFREE Mutant oncogene DJ1 L166P has been linked to a familial form of early-onset Parkinson's disease (PD). 22571429 2012
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
0.030 GeneticVariation BEFREE By performing a yeast two-hybrid screening from a human fetal brain library, we identified TRAF and TNF receptor-associated protein (TTRAP), an ubiquitin-binding domain-containing protein, as a novel DJ-1 interactor, which was able to bind the PD-associated mutations M26I and L166P more strongly than wild type. 19023331 2009
Young onset Parkinson disease
CUI: C4275179
Disease: Young onset Parkinson disease
0.030 GeneticVariation BEFREE A mutation in the human DJ-1 gene causing substitution of proline for leucine at residue 166 (L166P) has been linked to early onset Parkinson's disease. 18707128 2008