|
Sicca Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
|
24097067 |
2013 |
|
Sjogren's Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.
|
24097067 |
2013 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies (GWAS) have identified the GAK/DGKQ/IDUA region on 4p16.3 among the top three risk loci for Parkinson's disease (PD), but the specific gene and risk mechanism are unclear.
|
27508417 |
2016 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
|
22451204 |
2012 |
|
Parkinson Disease
|
0.160 |
Biomarker
|
disease |
BEFREE |
Full sequencing of TMEM175/GAK/DGKQ followed by genotyping of specific associated variants was performed in PD (n = 1,575) and rapid eye movement sleep behavior disorder (RBD) patients (n = 533) and in controls (n = 1,583).
|
31658403 |
2020 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
GWASDB |
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
|
21738487 |
2011 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
|
22451204 |
2012 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the relationships among 3 polymorphic markers located in the fibroblast growth factor 20 and transmembrane protein 175 genes and the genetic susceptibility to PD in northern Chinese subjects, 2 single nucleotide polymorphisms, and 1 insertion/deletion marker (rs591323 in FGF20; rs6599388 and rs142821586 in transmembrane protein 175 near the G-associated kinase/diacylglycerol kinase theta region) were investigated in 313 PD patients and 318 matched controls.
|
26535683 |
2015 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
GWASCAT |
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
|
22438815 |
2012 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
GWASDB |
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
|
22438815 |
2012 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
These data suggest the identification of new susceptibility alleles for PD in the GAK/DGKQ region, and also provide further support for the role of SNCA and MAPT in PD susceptibility.
|
18985386 |
2009 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients.
|
23618683 |
2013 |
|
Parkinson Disease
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Besides, post-hoc analysis confirmed GAK/DGKQ, HLA and MAPT as PD risk loci among the Dutch (GAK/DGKQ, rs2242235: P = 1.22 × 10(-4), OR = 1.51; HLA, rs4248166: P = 4.39 × 10(-5), OR = 1.36; and MAPT, rs3785880: P = 1.9 × 10(-3), OR = 1.19).
|
21248740 |
2011 |
|
Rheumatoid Arthritis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
Primary biliary cirrhosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
|
26394269 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Transancestral mapping and genetic load in systemic lupus erythematosus.
|
28714469 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
Myositis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
Myositis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
|
26362759 |
2016 |
|
Systemic Scleroderma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
|
31672989 |
2019 |
|
Systemic Scleroderma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
Alzheimer's Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, in order to discover potential AD-related loci, we investigated the association between late-onset AD (LOAD) susceptibility and nine single-nucleotide polymorphisms (SNPs) (rs11724635 of BST1, rs12637471 of MCCC1, rs15553999 of TMEM229, rs17649553 of MAPT, rs34311866 of TMEM175-GAK-DGKQ, rs356182 of SNCA, rs6430538 of ACMSD-TMEM163, rs76904798 of LRRK2 and rs823118 of RAB7L1-NUCKS1) which were reported to have genome-wide significant associations with PD risk in a recent Genome Wide Association Study performed among white population.
|
26738859 |
2017 |
|
Diabetes
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
DGKθ protein expression levels are closely related to the development of diseases including diabetes, cancer, and neuronal disease.
|
30229432 |
2019 |
|
Adult Liver Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate the role of diacylglycerol kinase θ (DGKθ) in lipid metabolism and insulin resistance, the present study generated an in vitro hepatic steatosis cell model by knockout of the DGKθ gene in liver cancer cell line HepG2 using CRISPR/Cas9 technology.
|
29207074 |
2018 |
|
Liver and Intrahepatic Biliary Tract Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate the role of diacylglycerol kinase θ (DGKθ) in lipid metabolism and insulin resistance, the present study generated an in vitro hepatic steatosis cell model by knockout of the DGKθ gene in liver cancer cell line HepG2 using CRISPR/Cas9 technology.
|
29207074 |
2018 |