|
Leukemia, Myelocytic, Acute
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
|
27903959 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.400 |
Biomarker
|
disease |
CTD_human |
Discovery of epigenetically silenced genes in acute myeloid leukemias.
|
17330099 |
2007 |
|
Acute Myeloid Leukemia, M1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Discovery of epigenetically silenced genes in acute myeloid leukemias.
|
17330099 |
2007 |
|
Acute Myeloid Leukemia (AML-M2)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Discovery of epigenetically silenced genes in acute myeloid leukemias.
|
17330099 |
2007 |
|
Glomerular Filtration Rate
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
|
response to aromatase inhibitor
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2.
|
30648747 |
2019 |
|
Osteoporosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women.
|
28580392 |
2016 |
|
Abnormality of brain morphology
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We identified in-frame fusions of MAP3K8-DIPC2, MAP3K8-PCDH7, MAP3K8-UBL3, MAP3K8-SVIL (n=6), and ATP2A2-MAP3K3 (n=1) as well as a p.I103_K104 in-frame deletion of MAP2K1 (n=1), in the absence of well-recognized drivers of melanocytic neoplasia.
|
30640733 |
2019 |
|
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Hypoxia-induced upregulation of supervillin promoted cancer cell migration and invasion via the activation of the ERK/p38 pathway downstream of RhoA/ROCK signaling.
|
29954442 |
2018 |
|
Chronic Obstructive Airway Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Case-control stratification identified three SNPs nominally associated with k in moderate-to-severe COPD ( rs6481619 within SVIL β = 0.152, P = 0.013; BTAF1 β = 0.196, P = 0.046; rs7386139 within DEPTOR β = 0.159, P = 0.047).
|
29799805 |
2018 |
|
Neoplasm Metastasis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Furthermore, supervillin regulated the expression of EMT genes during hypoxia and accelerated the metastasis of HCC in vivo.
|
29954442 |
2018 |
|
Tumor Cell Invasion
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Hypoxia-induced upregulation of supervillin promoted cancer cell migration and invasion via the activation of the ERK/p38 pathway downstream of RhoA/ROCK signaling.
|
29954442 |
2018 |
|
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Hypoxia-induced upregulation of supervillin promoted cancer cell migration and invasion via the activation of the ERK/p38 pathway downstream of RhoA/ROCK signaling.
|
29954442 |
2018 |
|
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, supervillin regulated the expression of EMT genes during hypoxia and accelerated the metastasis of HCC in vivo.
|
29954442 |
2018 |
|
Platelet thrombus
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We show for the first time that (1) platelets contain supervillin; (2) platelet thrombus formation in the PFA-100 is associated with human SVIL variants and low SVIL expression; and (3) murine platelets lacking supervillin exhibit enhanced platelet thrombus formation at high shear stress.
|
22550155 |
2012 |