|
Epileptic encephalopathy
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel West syndrome candidate genes in a Chinese cohort.
|
29667327 |
2018 |
|
Epileptic encephalopathy
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
HIV-1, RESISTANCE TO
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
AIDS, PROGRESSION TO
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
HIV-1 infection
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
Degenerative polyarthritis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium.
|
19508968 |
2009 |
|
Arteriosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population.
|
24423397 |
2014 |
|
Arteriosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
RYR3 gene variants in subclinical atherosclerosis among HIV-infected women in the Women's Interagency HIV Study (WIHS).
|
24561552 |
2014 |
|
Atherosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
RYR3 gene variants in subclinical atherosclerosis among HIV-infected women in the Women's Interagency HIV Study (WIHS).
|
24561552 |
2014 |
|
Atherosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population.
|
24423397 |
2014 |
|
Arteriosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
To replicate the association of variants in RYR3 gene with common carotid intima-media thickness (cIMT), a surrogate marker of atherosclerosis, we genotyped single nucleotide polymorphisms (SNPs) rs2229116 and rs7177922 in a sub-population of 244 HIV-positive and HIV-negative men.
|
22627881 |
2012 |
|
Atherosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
To replicate the association of variants in RYR3 gene with common carotid intima-media thickness (cIMT), a surrogate marker of atherosclerosis, we genotyped single nucleotide polymorphisms (SNPs) rs2229116 and rs7177922 in a sub-population of 244 HIV-positive and HIV-negative men.
|
22627881 |
2012 |
|
Arteriosclerosis
|
0.040 |
Biomarker
|
disease |
BEFREE |
These results suggest that in the context of HIV infection and HAART, a functional SNP in a biologically plausible candidate gene, RYR3, is associated with increased common carotid IMT, which is a surrogate for atherosclerosis.
|
20009918 |
2010 |
|
Atherosclerosis
|
0.040 |
Biomarker
|
disease |
BEFREE |
These results suggest that in the context of HIV infection and HAART, a functional SNP in a biologically plausible candidate gene, RYR3, is associated with increased common carotid IMT, which is a surrogate for atherosclerosis.
|
20009918 |
2010 |
|
Alzheimer's Disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
RYR3 variants are associated with hypertension, diabetes, and AD.
|
29590321 |
2018 |
|
Alzheimer's Disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Here, we compare mRNA levels of the RyR2 and RyR3 isoforms as well as specific alternatively spliced variants across vulnerable brain regions from postmortem samples of individuals with no cognitive impairment (NCI), mild cognitive impairment (MCI), and AD.
|
21531043 |
2012 |
|
Alzheimer's Disease
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Up-regulation of the type 3 ryanodine receptor is neuroprotective in the TgCRND8 mouse model of Alzheimer's disease.
|
19903243 |
2010 |
|
Hypertensive disease
|
0.020 |
GeneticVariation
|
group |
BEFREE |
RYR3 variants are associated with hypertension, diabetes, and AD.
|
29590321 |
2018 |
|
Caffeine related disorders
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Expression of RyR3 sensitizes the responses to caffeine with effects both in the ER (increase in Ca<sup>2+</sup> release) and in the cytosol (increase in Ca<sup>2+</sup> peak) at low caffeine concentrations (0.3-1 mM) that have no effects in control cells.
|
30389846 |
2018 |
|
Caffeine related disorders
|
0.020 |
Biomarker
|
group |
BEFREE |
In addition, RyR3-mediated intracellular Ca<sup>2+</sup> waves following caffeine stimulation were correlated with the expression pattern of RyR3, in which high flat Ca<sup>2+</sup> fluctuations and oscillatory Ca<sup>2+</sup> waves were more frequently recorded in OPCs and/or imOLs than in OLs.
|
29867353 |
2018 |
|
HIV Infections
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Therefore, we sequenced 339,480 bp encompassing 104 exons and 2 kb flanking region of the RYR3 gene in 96 HIV-positive white men from the extremes of the distribution of common cIMT from the Fat Redistribution and Metabolic Changes in HIV infection study (FRAM).
|
25500725 |
2015 |