rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant association between patients with parkinsonism exposed to pesticides and C3435T polymorphism of the MDR1 gene was found.
|
12724617 |
2003 |
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism.
|
20060871 |
2010 |
rs2032582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism.
|
20060871 |
2010 |
rs12817488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis.
|
24514572 |
2014 |
rs781442277
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Given the role of 2p23 locus in patients with intellectual disability and the previously reported PTRHD1 mutation (c.155G>A) in patients with parkinsonism and cognitive dysfunction, we concluded that the PTRHD1 mutation identified in this study is likely to be responsible for the phenotypic features of the family under consideration.
|
27753167 |
2017 |
rs1224426272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
|
31229470 |
2019 |
rs1057518882
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family.
|
24676999 |
2014 |
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy.
|
29499916 |
2018 |
rs387907571
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility.
|
25393719 |
2015 |
rs387907571
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
|
25186792 |
2014 |
rs2421947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that DNM3 rs2421947 was a haplotype tag for which the median onset of LRRK2 parkinsonism in GG carriers was 12·5 years younger than that of CC carriers (Arab-Berber cohort, hazard ratio [HR] 1·89, 95% CI 1·20-2·98).
|
27692902 |
2016 |
rs112176450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
rs113388242
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
rs774457232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
rs121918304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
|
25169713 |
2014 |
rs41311141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141).
|
27861377 |
2016 |
rs762999184
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the non-synonymous SNVs that were not shared between the two family members revealed non-synonymous SNVs related to parkinsonism including a novel heterozygous mutation (p.T44N) in FBX07 (PARK15) only in the proband, and non-synonymous SNVs related to neurodegeneration with brain iron accumulation in the affected brother.
|
25634434 |
2015 |
rs104894685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |
rs758414077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |
rs421016
|
|
|
0.730 |
GeneticVariation |
BEFREE |
α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
|
29310663 |
2018 |
rs421016
|
|
G |
0.730 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs421016
|
|
|
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 |
rs421016
|
|
|
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 |
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|