Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		0.300 Biomarker disease CTD_human Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.300 Biomarker disease CTD_human Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
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: C1445957
Disease: Serum total cholesterol measurement
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
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: 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 multiple susceptibility loci for glioma. 26424050 2015
CUI: C0566602
Disease: Primary sclerosing cholangitis
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
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
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: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.100 GeneticVariation disease GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
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: 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 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 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 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: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
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
CUI: C0006142
Disease: Malignant neoplasm of breast
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
CUI: C0017661
Disease: IGA Glomerulonephritis
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
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