rs34015634, LRRK2

N. diseases: 8
Disease: Parkinson Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE Generation of induced pluripotent stem cells from a patient with Parkinson's disease carrying LRRK2 p.I2012T mutation. 29127874 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.020 GeneticVariation BEFREE Our results revealed clinical heterogeneity of the LRRK2 p.I2012T substitution, and demonstrated the use of targeted NGS for genetic diagnosis in multiplex families with PD or mixed neurodegenerative disorders. 27628070 2016