EBF2, EBF transcription factor 2, 64641

N. diseases: 27; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1021230
rs1021230
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs4871958
rs4871958
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs73563812
rs73563812
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73563812
rs73563812
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11135910
rs11135910
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0600139
Disease:
Prostate carcinoma
T 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs10866846
rs10866846
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0013312
Disease:
Dupuytren Contracture
A 0.700 GeneticVariation GWASCAT A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. 28886342 2017
dbSNP: rs13256025
rs13256025
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0678222
Disease:
Breast Carcinoma
T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs6557876
rs6557876
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs7008914
rs7008914
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs55980452
rs55980452
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0373595
Disease:
Creatinine clearance measurement
0.700 GeneticVariation GWASCAT Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202. 26148204 2015
dbSNP: rs55980452
rs55980452
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0019693
Disease:
HIV Infections
0.700 GeneticVariation GWASCAT Genomewide association study of tenofovir pharmacokinetics and creatinine clearance in AIDS Clinical Trials Group protocol A5202. 26148204 2015
dbSNP: rs6991952
rs6991952
Entrez Id: 64641;102723395
Gene Symbol: EBF2;LOC102723395
EBF2;LOC102723395
CUI: C0019294
Disease:
Hernia, Inguinal
G 0.700 GeneticVariation GWASCAT A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. 26686553 2015
dbSNP: rs11135910
rs11135910
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0376358
Disease:
Malignant neoplasm of prostate
A 0.700 GeneticVariation GWASDB Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
dbSNP: rs11135910
rs11135910
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0600139
Disease:
Prostate carcinoma
A 0.700 GeneticVariation GWASCAT Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
dbSNP: rs10866845
rs10866845
Entrez Id: 64641;102723395
Gene Symbol: EBF2;LOC102723395
EBF2;LOC102723395
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome
0.010 GeneticVariation BEFREE Polymorphism of rs10866845 showed a significant difference in allele frequency between KD patients and controls (p=0.040). 29749135 2018
dbSNP: rs774679542
rs774679542
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C0003466
Disease:
Anus, Imperforate
0.010 GeneticVariation 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
dbSNP: rs774679542
rs774679542
Entrez Id: 64641
Gene Symbol: EBF2
EBF2
CUI: C3495676
Disease:
Anorectal Malformations
0.010 GeneticVariation BEFREE These results support that missense mutation in the EBF2 c.215C > T (p.Ala72Val) is very likely to contribute to the pathogenesis of ARM in this family. 29704291 2018