Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278878
Disease: Adult Glioblastoma
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
CUI: C0201850
Disease: Alkaline phosphatase measurement
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
CUI: C0678222
Disease: Breast Carcinoma
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
CUI: C0007570
Disease: Celiac Disease
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
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group GWASCAT Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group GWASCAT Chromosome 7p11.2 (EGFR) variation influences glioma risk. 21531791 2011
CUI: C0085136
Disease: Central Nervous System Neoplasms
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
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.100 GeneticVariation group GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050 2015
CUI: C0280474
Disease: Childhood Glioblastoma
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
CUI: C0795839
Disease: Chromosome 10, monosomy 10q
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
CUI: C0017636
Disease: Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
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
CUI: C0017636
Disease: Glioblastoma
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
CUI: C1621958
Disease: Glioblastoma Multiforme
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
CUI: C1621958
Disease: Glioblastoma Multiforme
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
CUI: C1621958
Disease: Glioblastoma Multiforme
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
CUI: C0017638
Disease: Glioma
Glioma
0.500 Biomarker disease BEFREE Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility. 26610392 2015
CUI: C0017638
Disease: Glioma
Glioma
0.500 Biomarker disease BEFREE Our data strongly support PHLDB1 as a susceptibility gene for glioma, also shedding light on a new potentially candidate gene, ARCN1. 23300798 2012
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease BEFREE The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis. 24935770 2015
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease GWASCAT We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). 19578367 2009
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease BEFREE We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort studies, 3 case-control studies, and 1 population-based case-only study) and found evidence of strong replication for three of the seven previously reported associations at 20q13.33 (RTEL), 5p15.33 (TERT), and 9p21.3 (CDKN2BAS), and consistent association signals for the remaining four at 7p11.2 (EGFR both loci), 8q24.21 (CCDC26) and 11q23.3 (PHLDB1). 22886559 2012
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease BEFREE We confirmed the association with glioma risk for variants within five genomic regions: 8q24.21 (CCDC26), 9p21.3 (CDKN2B-AS1), 11q23.3 (PHLDB1), 17p13.1 (TP53), and 20q13.33 (RTEL1). 25713050 2015
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease BEFREE In conclusion, this study found that PHLDB1 rs498872 polymorphism was significantly associated with glioma risk in Chinese Han population. 28886307 2017
CUI: C0017638
Disease: Glioma
Glioma
0.500 GeneticVariation disease BEFREE Specific single nucleotides polymorphisms (SNPs) rs4977756 (CDKN2A/B), rs6010620 (RTEL1), rs498872 (PHLDB1), rs2736100 (TERT), and rs4295627 (CCDC26) have been associated with glioma susceptibility and are potential risk biomarkers. 31721021 2020