rs1057518644
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs148881970
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553920379
|
|
AAAGT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555582065
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1566785444
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs387906846
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs529855742
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs555145190
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776625
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs606231193
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs875989800
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs879253767
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Data are conflicting concerning risk for ischemic stroke associated with hyperhomocyst(e)inemia (hyper-Hcy) and a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR 677C-->T), which predisposes to hyper-Hcy in vivo.
|
12196644 |
2002 |
rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases.
|
12573870 |
2003 |
rs397507548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gln506Pro is predicted, by modeling analysis, to seriously disrupt the normal contacts between the regulating N-SH2 and the active PTP domains, leading to hyperactivity of the phosphatase.
|
14961557 |
2003 |
rs397509345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gln506Pro is predicted, by modeling analysis, to seriously disrupt the normal contacts between the regulating N-SH2 and the active PTP domains, leading to hyperactivity of the phosphatase.
|
14961557 |
2003 |
rs5569
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant association was found between norepinephrine transporter gene G1287A genotypes and response to methylphenidate for hyperactive-impulsive subscale scores (mean score reduction was 7.15 and 6.94 for G/G and G/A genotype, respectively, and 2.13 for A/A; p = .012) but not inattentive scores.
|
15322419 |
2004 |
rs63750756
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In open field test, N279K mice showed hyperactivity in locomotion and rearing.
|
16219306 |
2005 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Thus, expression of A</span>53T mutant human alpha-synuclein in mice results in adult-onset hyperactivity associated with D1 receptor and dopamine transporter-mediated alterations in dopamine neurotransmission.
|
16230020 |
2006 |
rs1800035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The N251K polymorphism does not represent a genetic factor to explain the alpha(2A)-adrenoceptor hyperactivity in the brains of depressed suicide victims.
|
16333651 |
2006 |
rs4680
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects.
|
16362639 |
2006 |
rs6313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects.
|
16362639 |
2006 |
rs75634836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, were tested for associations with the ASRS subscales inattention and hyperactivity/impulsivity in N = 203 healthy subjects.
|
16362639 |
2006 |
rs4291
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We could show that SNP rs4291 influences ACE activity and HPA-axis hyperactivity and might therefore represent a common pathophysiologic link for unipolar depression and cardiovascular disease.
|
16924268 |
2006 |
rs121912703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation.
|
16958600 |
2006 |