|
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
To assess the associations between SNPs in the FAM13A, PHLDB1, and CYP24A1 gene and breast cancer risk in the Chinese Han population.
|
31215377 |
2019 |
|
IGA Glomerulonephritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
As a result, NTN4 rs1362970 A/A and GNG2 rs3204008 G/G genotypes were associated with enhanced IgAN risk in males (p = 0.006, p = 0.023, respectively), and the association between the PHLDB1 rs7389 G/T genotype and higher IgAN risk was found in females (p = 0.008).
|
30928649 |
2019 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
To assess the associations between SNPs in the FAM13A, PHLDB1, and CYP24A1 gene and breast cancer risk in the Chinese Han population.
|
31215377 |
2019 |
|
Rheumatoid Arthritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We also identified a potential novel RA risk locus (11q23.3, start position 118528941 bp) which contains the following 3 genes: TREH-PHLDB1-MIR6716; the locus was not identified previously but may be a proxy for CXCR5.
|
28134081 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We discovered multiple susceptibility variants for SLE in the 11q23.3 region, including variants in/near PHLDB1 (rs11603023, P(_combined) = 1.25E-08, OR = 1.20), DDX6 (rs638893, P(_combined) = 5.19E-07, OR = 1.22) and CXCR5 (rs10892301, P(_combined) = 2.51E-08, OR = 0.85).
|
24001599 |
2014 |
|
Chromosome 10, monosomy 10q
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR amplification, CDKN2A-p16-INK4a homozygous deletion, and 9p and 10q deletion; rs4295627 (CCDC26) and rs498872 (PHLDB1) were associated with low-grade disease, IDH mutation, and 1p-19q codeletion.
|
23161787 |
2013 |
|
Adult Glioblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)).
|
21350045 |
2011 |
|
Childhood Glioblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)).
|
21350045 |
2011 |
|
Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
We also found that PHLDB1 rs498872 polymorphism was not associated with histology and tumor grade of glioma.
|
28886307 |
2017 |
|
Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The frequency of EGFR and CDKN2A/B risk alleles were largely independent of tumor genetic profile, whereas TERT, RTEL1, CCDC26, and PHLDB1 variants were associated with different genetic profiles that annotate distinct molecular pathways.
|
23161787 |
2013 |
|
Glioblastoma Multiforme
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The variant TT genotype of TREH rs17748 and the variant TT genotype of PHLDB1 rs498872 decreased GBM risk in the recessive model.
|
26156397 |
2015 |
|
Glioblastoma Multiforme
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Results showed clear heterogeneity according to histologic subtypes of glioma, with TERT and RTEL variants a feature of astrocytic tumors and glioblastoma (GBM), CCDC26 and PHLDB1 variants a feature of astrocytic and oligodendroglial tumors, and CDKN2B variants most prominent in GBM.
|
21203894 |
2011 |
|
Glioblastoma Multiforme
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)).
|
21350045 |
2011 |
|
Glioblastoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
We also observed that the GA genotype of the rs498872 (PHLDB1) was associated with an increased risk of gliomas (OR 2.92) and glioblastomas (OR 2.39).
|
31721021 |
2020 |
|
Glioblastoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The variant TT genotype of TREH rs17748 and the variant TT genotype of PHLDB1 rs498872 decreased GBM risk in the recessive model.
|
26156397 |
2015 |
|
Glioblastoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)).
|
21350045 |
2011 |
|
Glioblastoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Results showed clear heterogeneity according to histologic subtypes of glioma, with TERT and RTEL variants a feature of astrocytic tumors and glioblastoma (GBM), CCDC26 and PHLDB1 variants a feature of astrocytic and oligodendroglial tumors, and CDKN2B variants most prominent in GBM.
|
21203894 |
2011 |
|
Alkaline phosphatase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
Central Nervous System Neoplasms
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
|
28346443 |
2017 |
|
Celiac Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
|
25920553 |
2016 |
|
Central Nervous System Neoplasms
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Genome-wide association study identifies multiple susceptibility loci for glioma.
|
26424050 |
2015 |
|
Primary sclerosing cholangitis
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
|
23603763 |
2013 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Discovery and refinement of loci associated with lipid levels.
|
24097068 |
2013 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Discovery and refinement of loci associated with lipid levels.
|
24097068 |
2013 |