DDX41, DEAD-box helicase 41, 51428

N. diseases: 54; N. variants: 10
Disease: Childhood Leukemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 GeneticVariation disease BEFREE Germline DDX41 mutations were recently reported to cause MDS/AML and donor-derived leukemia after transplantation. 31713024 2020
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 Biomarker disease BEFREE Using mice with cell type-specific knockout of the <i>Ddx41</i> gene, we show that DDX41 sensing in DCs but not macrophages was critical for controlling <i>in vivo</i> MLV infection. 29871919 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 GeneticVariation disease BEFREE Data from cord blood cells and leukemia cell lines suggest a role for DDX41 in preribosomal RNA processing, in which the expression of the p.R525H mutant causes a certain ribosomopathy phenotype in hematopoietic cells by suppressing MDM2-mediated RB degradation, thus triggering the inhibition of E2F activity. 27174803 2016