DPF3, double PHD fingers 3, 8110

N. diseases: 20; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 GeneticVariation disease GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.110 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple risk loci for renal cell carcinoma. 28598434 2017
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
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
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.100 GeneticVariation disease GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE A total of 136 subfertile men and 456 healthy fertile men were recruited. rs6476866 in SLC1A1 (P = 1.919E-4, OR = 0.5905, 95% CI: 0.447-0.78) and rs10129954 in DPF3 (P = 0.0023, OR = 2.199, 95% CI: 1.311-3.689) were strongly associated with idiopathic male infertility. 27232852 2018
CUI: C0021364
Disease: Male infertility
Male infertility 		0.020 GeneticVariation phenotype BEFREE In this study, we investigated whether the rs10966811 (located in an intergenic region between the TUSC1 and IZUMO3 genes) and rs10129954 (located in the DPF3 gene) SNPs, previously related to family size, are associated with male infertility. 28975488 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE In conclusion, we found that the downregulation of DPF3 plays an indispensable function in the progression of breast cancer, and may be served as a novel therapeutic target to therapy breast cancer. 31076105 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019