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: 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: C0028754
Disease: Obesity
Obesity 		0.010 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: 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
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 GeneticVariation disease BEFREE The present study investigated the association between KD and single nucleotide polymorphisms (SNPs) in the candidate gene early B cell factor 2 (EBF2), which is associated with inflammation markers. 29749135 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 Biomarker disease BEFREE There was a weak association between anti-EBF2 and SLE disease activity but no significant associations were determined for other measured IgG reactivity. 30041579 2018
CUI: C0278512
Disease: Metastatic osteosarcoma
Metastatic osteosarcoma 		0.010 Biomarker disease BEFREE These results provided new therapeutic targets for metastatic osteosarcoma and insights into molecular regulation of EBF2. 30529043 2019
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.010 GeneticVariation group 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
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 Biomarker group BEFREE To get insight into Ebf2 function in peripheral nervous system, here we characterize the peripheral neuropathy affecting these mice. 21220016 2011
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 Biomarker group BEFREE To get insight into Ebf2 function in peripheral nervous system, here we characterize the peripheral neuropathy affecting these mice. 21220016 2011
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 Biomarker disease BEFREE We demonstrate upregulation of the Knot ortholog EBF2 in glomeruli of human diabetic nephropathy patients and a mouse ob/ob diabetes model. 26190114 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 Biomarker group BEFREE We demonstrate upregulation of the Knot ortholog EBF2 in glomeruli of human diabetic nephropathy patients and a mouse ob/ob diabetes model. 26190114 2015
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