rs421016, GBA

N. diseases: 30
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.730 GeneticVariation BEFREE α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism. 29310663 2018
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.730 GeneticVariation BEFREE Six GD3 patients, all homoallelic for L444P GBA1 mutations, have lived beyond 40years of age; and none has developed Parkinsonism. 27789132 2018
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.730 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.730 SusceptibilityMutation CLINVAR