AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME 		0.710 GeneticVariation disease BEFREE These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.410 GeneticVariation disease BEFREE Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.310 GeneticVariation group BEFREE Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). 25730767 2015
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		0.040 Biomarker disease BEFREE Infertility with defective spermiogenesis in mice lacking AF5q31, the target of chromosomal translocation in human infant leukemia. 16024815 2005
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		0.040 Biomarker disease BEFREE A single case of chromosomal rearrangement leading to production of an MLL fusion with AF5Q31, a gene structurally similar to AF4, has been detected recently in the malignant cells of an infant leukemia patient. 12759932 2003
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		0.040 AlteredExpression disease BEFREE In a cell line of infant leukemia with MLL rearrangement denoted KP-L-RY, panhandle PCR amplification of cDNA revealed the presence of a fusion transcript, MLL-AF5q31, indicating that AF5q31 is also a partner gene of MLL. 12399976 2002
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		0.040 Biomarker disease BEFREE Our findings further suggest that fusion of MLL to one of the AF4 family members (AF4/LAF4/AF5Q31) might determine a proB-cell phenotype in infant leukemia. 12203795 2002
CUI: C0023418
Disease: leukemia
leukemia 		0.030 AlteredExpression disease BEFREE Knockdown of AFF4 in leukemic cells shows reduction in MLL chimera target gene expression, suggesting that AFF4/SEC could be a key regulator in the pathogenesis of leukemia through many of the MLL partners. 20159561 2010
CUI: C0023418
Disease: leukemia
leukemia 		0.030 AlteredExpression disease BEFREE MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein. 12065898 2003
CUI: C0023418
Disease: leukemia
leukemia 		0.030 Biomarker disease BEFREE These findings suggest that AFF4/SEC could be a potential therapeutic target for the treatment of leukemia or other cancers associated with MYC overexpression. 22547686 2012
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 AlteredExpression disease BEFREE Knockdown of AFF4 in leukemic cells shows reduction in MLL chimera target gene expression, suggesting that AFF4/SEC could be a key regulator in the pathogenesis of leukemia through many of the MLL partners. 20159561 2010
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 AlteredExpression disease BEFREE MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein. 12065898 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 Biomarker disease BEFREE These findings suggest that AFF4/SEC could be a potential therapeutic target for the treatment of leukemia or other cancers associated with MYC overexpression. 22547686 2012
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.030 Biomarker disease BEFREE Recently in Molecular Cell, Lin et al.(2010) showed that multiple MLL-fusion proteins implicated in mixed-lineage leukemia (MLL) associate with AFF4, ELLs, and the positive transcription elongation factor P-TEFb, providing evidence that the dysregulated gene expression in MLL patients is due to aberrant transcription elongation. 20188661 2010
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.030 Biomarker disease BEFREE Further understanding of the function of AF5q31 as well as the specific leukemogenic mechanism of MLL-AF5q31 awaits future studies. 12399976 2002
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.030 GeneticVariation disease BEFREE AF5q31 (also called MCEF) was identified by its involvement in chromosomal translocation with the gene MLL (mixed lineage leukemia), which is associated with infant acute lymphoblastic leukemia. 16024815 2005
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		0.030 Biomarker disease BEFREE These findings suggest that AF5q31 and AF4 might define a new family particularly involved in the pathogenesis of 11q23-associated-ALL. 10588740 1999
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		0.030 AlteredExpression disease BEFREE The MLL-AF5q31 fusion transcript, although probably rare, appears to be associated with the pathogenesis of infant ALL like MLL-AF4. 12399976 2002
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		0.030 GeneticVariation disease BEFREE AF5q31 (also called MCEF) was identified by its involvement in chromosomal translocation with the gene MLL (mixed lineage leukemia), which is associated with infant acute lymphoblastic leukemia. 16024815 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 Biomarker disease BEFREE These findings suggest that LAF4, AF4 and AF5q31 might define a new family particularly involved in the pathogenesis of 11q23-associated ALL. 12743608 2003
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.020 AlteredExpression disease BEFREE Cloning of its cognate cDNA revealed that MCEF is the newest member of the AF4 family of transcription factors involved in acute lymphoblastic leukemia. 12065898 2003
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 Biomarker disease BEFREE The m<sup>6</sup>A methyltransferase METTL3 promotes bladder cancer progression via AFF4/NF-κB/MYC signaling network. 30659266 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE The m<sup>6</sup>A methyltransferase METTL3 promotes bladder cancer progression via AFF4/NF-κB/MYC signaling network. 30659266 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE We previously purified the AFF1- and AFF4-containing super elongation complex (SEC) as a major regulator of development and cancer pathogenesis. 22547686 2012
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		0.010 AlteredExpression disease BEFREE MYC is one of the direct targets of AFF4/SEC, and SEC recruitment to the MYC gene regulates its expression in different cancer cells, including those in acute myeloid or lymphoid leukemia. 22547686 2012