rs34637584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor.
|
17151837 |
2007 |
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found.
|
15886424 |
2006 |
rs35986369
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS.
|
15099020 |
2004 |
rs63750756
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation.
|
12573870 |
2003 |
rs80338777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred.
|
11034874 |
2000 |
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Transgenic mice expressing wild mouse and mutant human A30P alpha-synuclein, Tg5093 mice (Tg), show a progressive motor disorder characterized by tremor, rigidity, and dystonia, accompanied by accumulation of alpha-synuclein in the soma and neurites and by a conspicuous gliosis beginning in the hippocampal formation at the age of 7 to 8 months and spreading throughout the CNS.
|
15099020 |
2004 |
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
High expression of alpha-synuclein A30P in the Tg5093 line was associated with a progressive motor disorder with rigidity, dystonia, gait impairment, and tremor.
|
12498958 |
2003 |
rs1057524157
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
rs1057524157
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1057518839
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs138008832
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs139194636
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1421405659
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs146170087
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554317002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1569548274
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs200455852
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs201893408
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs397514698
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs515726205
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs564856283
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777721
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs606231435
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs752362727
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|