|
Degenerative polyarthritis
|
0.130 |
GeneticVariation
|
disease |
GWASCAT |
A variant in MCF2L is associated with osteoarthritis.
|
21871595 |
2011 |
|
Degenerative polyarthritis
|
0.130 |
GeneticVariation
|
disease |
GWASDB |
A variant in MCF2L is associated with osteoarthritis.
|
21871595 |
2011 |
|
Degenerative polyarthritis
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
There are no non-synonymous SNPs that correlate with this association signal and we therefore set out to assess whether its effect on OA susceptibility is mediated by alteration of MCF2L expression.
|
26584642 |
2015 |
|
Cardiovascular Diseases
|
0.110 |
GeneticVariation
|
group |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Cardiovascular Diseases
|
0.110 |
GeneticVariation
|
group |
BEFREE |
In conclusion, a rare functional variant in MCF2L, leading to impaired DH function, was identified in a small pedigree with premature CVD.
|
25898923 |
2016 |
|
Dystonia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Some of the rarer types of dystonia that have also been treated with DBS are also described.
|
20083014 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To assess the influence of sex on the short-term and long-term effects of subthalamic nucleus stimulation (STN-DBS) in Parkinson's disease (PD) METHODS: We evaluated 48 male and 52 female PD patients enrolled in our prospective DBS registry who received bilateral STN-DBS between 2005 and 2013 and had 5-year follow-up data.
|
31621625 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On an individual level, participants with PD exhibited heterogeneous changes with DBS stimulation.
|
29032347 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS.
|
20177695 |
2010 |
|
Tremor
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Antero-dorso-medial stimulation site in the STA were associated with less tremor and adverse effects in our small single-center cohort of ET patients with thalamic DBS.
|
30981663 |
2019 |
|
Essential Tremor
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We recruited 8 patients with essential tremor in a stable postoperative condition (>3 months after electrode implantation of deep brain stimulation [DBS] electrodes) with segmented contacts implanted in the VIM.
|
30045955 |
2018 |
|
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Some of the rarer types of dystonia that have also been treated with DBS are also described.
|
20083014 |
2009 |
|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.
|
28135244 |
2017 |
|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
|
30578418 |
2019 |
|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
|
27841878 |
2017 |
|
Coagulation factor measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
|
23381943 |
2013 |
|
Coronary Artery Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
von Willebrand's factor (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
|
23381943 |
2013 |
|
Factor VII measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
|
30642921 |
2019 |
|
Dyskinetic syndrome
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
This systematic review has analyzed the currently available literature reporting cases with either tardive dystonia or dyskinesia treated with DBS.
|
29433807 |
2018 |
|
Epilepsy
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Analysis revealed that serum concentrations (calculated from DBS) within the respective reference ranges were attained in only 52.9% of the 68 Nodding syndrome patients treated with valproic acid, in 21.4% of the 56 Ugandan epilepsy patients treated with carbamazepine, and in 65.7% of the 137 onchocerciasis-associated epilepsy patients from the DRC treated with phenobarbital.
|
31834012 |
2019 |
|
Presenile dementia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
This study analyzes changes in body mass index (BMI) in 29 subjects from a prospective, single-blind trial of DBS in early stage PD (age 50-75, Hoehn & Yahr stage II off medication, treated with antiparkinsonian medications for ≥6 months but <4 years, and without a history of motor fluctuations, dyskinesias, or dementia).
|
28676842 |
2017 |
|
Parkinsonian Disorders
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Bilateral STN-DBS in LRRK2-parkinsonism with the Y1699C mutation can be as effective as in sporadic PD.
|
23938256 |
2012 |
|
Dementia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
This study analyzes changes in body mass index (BMI) in 29 subjects from a prospective, single-blind trial of DBS in early stage PD (age 50-75, Hoehn & Yahr stage II off medication, treated with antiparkinsonian medications for ≥6 months but <4 years, and without a history of motor fluctuations, dyskinesias, or dementia).
|
28676842 |
2017 |