|
Breast Carcinoma
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
Breast Carcinoma
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
The clinical significance of these findings is indicated by the observation that the BRCA2/APRIN interaction is compromised by BRCA2 missense variants of previously unknown significance and that APRIN expression levels are associated with histological grade in breast cancer and the outcome of breast cancer patients treated with DNA-damaging chemotherapy.
|
22293751 |
2012 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Memory performance
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.
|
29274321 |
2018 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
|
30108127 |
2018 |
|
Coronary Artery Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
|
Squamous cell carcinoma of lung
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
|
28604730 |
2017 |
|
Carcinoma of lung
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
|
28604730 |
2017 |
|
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 |
|
Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Using a combination of targeted and exome sequencing of tumor and matched normal samples from 26 familial MDS/AML cases and asymptomatic carriers, we identified recurrent frameshift mutations in the cohesin-associated factor PDS5B, co-occurrence of somatic ASXL1 mutations with germ line GATA2 mutations, and recurrent mutations in other known MDS/AML drivers.
|
26492932 |
2015 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Both SGOL1 and PDS5B are considered putative tumor suppressor genes.
|
23850494 |
2013 |
|
Tumor Progression
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Pds5b (precocious dissociation of sisters 5B) is involved in both tumorigenesis and cancer progression; however, the functions and molecular mechanisms of Pds5b in pancreatic cancer (PC) are unknown.
|
31233836 |
2019 |
|
Pancreatic carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Strikingly, Pds5b expression was positively associated with levels of Ptch2 in PC patient samples, suggesting that the Pds5b/Ptch2 axis regulates cell proliferation and invasion in PC cells.
|
31233836 |
2019 |
|
Malignant neoplasm of pancreas
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Strikingly, Pds5b expression was positively associated with levels of Ptch2 in PC patient samples, suggesting that the Pds5b/Ptch2 axis regulates cell proliferation and invasion in PC cells.
|
31233836 |
2019 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Pds5b (precocious dissociation of sisters 5B) is involved in both tumorigenesis and cancer progression; however, the functions and molecular mechanisms of Pds5b in pancreatic cancer (PC) are unknown.
|
31233836 |
2019 |
|
Tumor Cell Invasion
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Strikingly, Pds5b expression was positively associated with levels of Ptch2 in PC patient samples, suggesting that the Pds5b/Ptch2 axis regulates cell proliferation and invasion in PC cells.
|
31233836 |
2019 |
|
Refractory Classic Hodgkin Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Patients 18 years of age or older with untreated, advanced-stage (defined as III to IV and IIB with unfavorable risk factors) cHL were eligible for Cohort D of this multicenter, noncomparative, phase II trial.
|
31112476 |
2019 |
|
Gestational Trophoblastic Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
The elder sister was diagnosed with gestational trophoblastic neoplasia (III: 2) while the younger sister was diagnosed as III: 3 according to WHO scoring system.
|
30235719 |
2018 |
|
Carcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
Cohesin subunits, STAG1 and STAG2, and cohesin regulatory factor, PDS5b, in oral squamous cells carcinomas.
|
27341316 |
2017 |
|
Colorectal Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to explore whether SGOL1 and PDS5B genes are mutated and expressionally altered in gastric and colorectal cancers.
|
23850494 |
2013 |
|
Malignant neoplasm of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The clinical significance of these findings is indicated by the observation that the BRCA2/APRIN interaction is compromised by BRCA2 missense variants of previously unknown significance and that APRIN expression levels are associated with histological grade in breast cancer and the outcome of breast cancer patients treated with DNA-damaging chemotherapy.
|
22293751 |
2012 |
|
Cleft Palate
|
0.010 |
Biomarker
|
disease |
BEFREE |
Curiously, these mice exhibit multiple abnormalities that were previously observed in Pds5B-deficient mice, including cleft palate, skeletal patterning defects, growth retardation, congenital heart defects and delayed migration of enteric neuron precursors.
|
19412548 |
2009 |
|
Heart failure
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
While Pds5A(-/-) and Pds5B(-/-) mice die at birth, embryos harboring 3 mutant Pds5 alleles die between E11.5 and E12.5 most likely of heart failure, indicating that total Pds5 gene dosage is critical for normal development.
|
19412548 |
2009 |
|
Congestive heart failure
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
While Pds5A(-/-) and Pds5B(-/-) mice die at birth, embryos harboring 3 mutant Pds5 alleles die between E11.5 and E12.5 most likely of heart failure, indicating that total Pds5 gene dosage is critical for normal development.
|
19412548 |
2009 |
|
Cornelia De Lange Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We further identified a functional missense mutation (R1292Q) in the PDS5B DNA-binding domain in a familial case of CdLS, in which affected individuals also develop megacolon.
|
19412548 |
2009 |