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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Besides, our data further revealed that overexpressed EBF2 inhibited apoptosis and facilitated migration and invasion of osteosarcoma cells. 30529043 2019
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: 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: 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: 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: 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: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.010 Biomarker disease BEFREE Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- 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: C0005699
Disease: Blast Phase
Blast Phase 		0.010 PosttranslationalModification disease BEFREE In chronic myeloid leukemia (CML) two of the genes, (TFAP2A and EBF2), demonstrated increased methylation in blast crisis compared to chronic phase (P < 0.05). 20184741 2010
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 Biomarker disease BEFREE In chronic myeloid leukemia (CML) two of the genes, (TFAP2A and EBF2), demonstrated increased methylation in blast crisis compared to chronic phase (P < 0.05). 20184741 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 GeneticVariation disease BEFREE Nasal embryonic LHRH factor (NELF) and early B-cell factor 2 (EBF2) exons were evaluated in KAL-1/GnRH-R mutation-negative cases (seven KS and five nHH) by sequence analysis but no mutations were identified in the coding regions in these patients. 16423815 2005
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: 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: 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