|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Fibrinogen assay
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.
|
28107422 |
2017 |
|
Interleukin 17 Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.
|
27989323 |
2017 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Platelet mean volume determination (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Fibrinogen assay
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
|
26561523 |
2016 |
|
Platelet Component Distribution Width Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
New gene functions in megakaryopoiesis and platelet formation.
|
22139419 |
2011 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
New gene functions in megakaryopoiesis and platelet formation.
|
22139419 |
2011 |
|
insulinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
<i>Ire1α</i> deletion in pancreatic β cells in mice and insulinoma cells resulted in decreased insulin secretion, decreased insulin and proinsulin contents in cells, and decreased oxidative folding of proinsulin along with decreased expression of five protein disulfide isomerases (PDIs): PDI, PDIR, P5, ERp44, and ERp46.
|
29507125 |
2018 |
|
Diabetes Mellitus
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke.
|
28487959 |
2017 |
|
Hypertensive disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke.
|
28487959 |
2017 |
|
Ischemic stroke
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke.
|
28487959 |
2017 |
|
Glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A member 5 (PDIA5) and baculoviral IAP repeat containing 6 (BIRC6), in different forms of glaucoma.
|
25118708 |
2014 |
|
Angle Closure Glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6.
|
25118708 |
2014 |
|
Primary angle-closure glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6.
|
25118708 |
2014 |
|
Glaucoma, Primary Open Angle
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This study did not confirm a previously reported association of risk alleles in PDIA5 and BIRC6 with POAG, but did demonstrate a protective role of the T allele of rs2754511 in the BIRC6 gene in PEXG.
|
25118708 |
2014 |
|
Mucopolysaccharidoses
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
However, our results show that in most of the analyzed MPS fibroblasts the expression of a poorly known protein belonging to the family of the protein disulfide isomerases, namely Pdia5, is upregulated; here we discuss if its upregulation could be an early event of ER stress possibly related to the severity of the damage induced in the mutant proteins.
|
22002444 |
2012 |