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rs1555743003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
rs63750687
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
rs1555358382
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555507479
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1564045331
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs76763715
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs778543124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797045032
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs878853250
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021).
|
19458969 |
2010 |
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
They had significantly more symmetric signs and less rigidity than ADP caused by the G2019S mutation in LRRK2 or by unknown mutations.
|
17568014 |
2007 |
|
rs199474750
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data concludes that the K1444N (K1423N) mutant lead to increasing the rigidity and compactness of the protein.
|
29804243 |
2018 |
|
rs199476305
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that E62Q tropomyosin destabilizes thin filament off-state function by increasing calcium-sensitivity, but without apparent affect on global tropomyosin structure by modifying coiled-coil rigidity.
|
29626422 |
2018 |
|
rs730881131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results show that E62Q tropomyosin destabilizes thin filament off-state function by increasing calcium-sensitivity, but without apparent affect on global tropomyosin structure by modifying coiled-coil rigidity.
|
29626422 |
2018 |
|
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
|
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
|
rs363371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
|
rs431905511
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Indeed, these contacts provide more rigidity to the monomeric G51D.
|
28759722 |
2017 |
|
rs868694193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
D104N in renin, associated with renal tubular dysgenesis, caused increased rigidity in the protein complex comparison to the wild type, which probably in turn negatively affects the function of RAS.
|
28302554 |
2017 |
|
rs28933383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Family 2 had an 8-year-old patient with muscle spasms with rigidity for whom WES revealed a previously reported heterozygous missense mutation in KCNA1 c.677C>G (p.T226R), confirming the diagnosis of EA1 without ataxia.
|
26395884 |
2016 |
|
rs11868035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor.
|
24514572 |
2014 |
|
rs356220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor.
|
24514572 |
2014 |
|
rs200660418
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity), namely on what concerns genetic variation in Parkinson's disease (PD) associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNA(Gln) T4336C).
|
22023810 |
2011 |
|
rs104893878
|
|
|
0.010 |
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 |