|
Epileptic encephalopathy
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
|
25262651 |
2014 |
|
Epileptic encephalopathy
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel West syndrome candidate genes in a Chinese cohort.
|
29667327 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
HIV-1 infection
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study of carotid atherosclerosis in HIV-infected men.
|
20009918 |
2010 |
|
Arteriosclerosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Association of the RYR3 gene polymorphisms with atherosclerosis in elderly Japanese population.
|
24423397 |
2014 |
|
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 |
|
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 |
|
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 |
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 |
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 |
|
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 |
|
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 |
|
Anus, Imperforate
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
HSCR tissue specimens (n = 6) were collected at the time of pull-through surgery, while control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 6). qRT-PCR analysis was undertaken to quantify Ryr1, Ryr2 and Ryr3 gene expression, and immunolabelling of Ryr1, Ryr2 and Ryr3 proteins was visualised using confocal microscopy.
|
31263958 |
2019 |
|
Autistic Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
The present study provides no positive evidence for the association between the RyR3 gene and autism in the Japanese population.
|
18588595 |
2008 |
|
Autistic Disorder
|
0.010 |
Biomarker
|
disease |
LHGDN |
The present study provides no positive evidence for the association between the RyR3 gene and autism in the Japanese population.
|
18588595 |
2008 |
|
Malignant neoplasm of breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification.
|
21810988 |
2011 |
|
Malignant tumor of colon
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among seven target variants, rs1044129 at the miR-367 binding site of calcium channel ryanodine receptor gene 3 (RYR3) was associated with relapse-free survival (RFS) for colon cancer patients as a recessive model in a univariate analysis.
|
23393343 |
2013 |
|
Colorectal Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The current study suggests that the functional variant (rs1044129) in the miR-367 binding site of RYR3 may be a potential marker for prognosis in patients following curative surgery for CRC.
|
23393343 |
2013 |
|
Coronary Arteriosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the context of the Genetics of Hypertension Associated Treatment study and using a case-only design, we examined whether single-nucleotide polymorphisms in RYR3 interact with four classes of antihypertensive drugs, particularly the calcium channel blocker amlodipine versus other classes, to modify the risk of coronary heart disease (CHD; fatal CHD and non-fatal myocardial infarction combined) and heart failure (HF) in high-risk hypertensive individuals.
|
22664477 |
2013 |