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: 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