EBF2, EBF transcription factor 2, 64641

N. diseases: 27; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.310 Biomarker disease GENOMICS_ENGLAND We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). 29704291 2018
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.310 GeneticVariation disease BEFREE We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). 29704291 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
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: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.100 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture
0.100 GeneticVariation disease GWASCAT A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. 28886342 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. 26686553 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.100 GeneticVariation disease GWASDB Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease GWASCAT Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.030 AlteredExpression disease BEFREE Our research indicated that downexpression of miR-182-3p in OS cells results in overexpression of EBF2 and promotes the progression of OS. 30993113 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.030 AlteredExpression disease BEFREE Additionally, EBF2 overexpression rescued the phenotype caused by miR-204-5p.Our data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. 30529043 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.030 AlteredExpression disease BEFREE Our research indicated that downexpression of miR-182-3p in OS cells results in overexpression of EBF2 and promotes the progression of OS. 30993113 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.030 AlteredExpression disease BEFREE Additionally, EBF2 overexpression rescued the phenotype caused by miR-204-5p.Our data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. 30529043 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.030 AlteredExpression disease BEFREE Additionally, EBF2 overexpression rescued the phenotype caused by miR-204-5p.Our data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. 30529043 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.030 AlteredExpression disease BEFREE Our research indicated that downexpression of miR-182-3p in OS cells results in overexpression of EBF2 and promotes the progression of OS. 30993113 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.030 AlteredExpression disease BEFREE EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance. 19671856 2009
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.030 AlteredExpression disease BEFREE EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance. 19671856 2009
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.030 AlteredExpression disease BEFREE EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance. 19671856 2009
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 Biomarker disease BEFREE Overall, the study highlights the existence of novel regulatory mechanisms between Id1/PGC1α and Id1/Ebf2 in controlling brown fat metabolism, which has significant implications in the treatment of obesity and its associated diseases, such as diabetes. 28270523 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 Biomarker group BEFREE Overall, the study highlights the existence of novel regulatory mechanisms between Id1/PGC1α and Id1/Ebf2 in controlling brown fat metabolism, which has significant implications in the treatment of obesity and its associated diseases, such as diabetes. 28270523 2017