|
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 |
|
rs3810651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex.
|
21422964 |
2011 |
|
rs3794087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotypic and allelic frequencies of rs3794087 did not differ significantly between patients with ET and controls and were unrelated with the age at onset of tremor or sex.
|
23949322 |
2013 |
|
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 |
|
rs76732092
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age.
|
26108367 |
2015 |
|
rs80356727
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age.
|
26108367 |
2015 |
|
rs6600879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
|
rs6600880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
|
rs7439366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
|
rs4292394
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
|
rs6600893
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a genotype recessive model, rs6600879, rs6600880, rs4554144, rs11940316, rs7438135, rs7662029, rs7668258, rs7439366, rs4292394 and rs6600893 showed significant associations with severity of withdrawal symptoms (permutation p < 0.002), pupil size (permutation p < 0.048) and tremor (permutation p < 0.008).
|
22676193 |
2012 |
|
rs281865051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls.
|
18435766 |
2008 |
|
rs34016896
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower.
|
29564728 |
2018 |
|
rs104894158
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, Egr2(I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days.
|
19244508 |
2009 |
|
rs786205232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor.
|
27733563 |
2016 |
|
rs900147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(-4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(-2)).
|
26507264 |
2015 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found.
|
15886424 |
2006 |
|
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 |
|
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |
|
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |
|
rs12593813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MAP2K5/SKOR1 marker rs12593813 was associated with higher frequency of tremor in the Tel-Aviv cohort (61.0% vs. 46.5%, p = 0.001, dominant model).
|
25817513 |
2015 |
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
|
rs76763715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
|
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 |