NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE In summary, our findings provide novel insights into the frequency of NF1 mutations in AML, and are suggestive of an adverse prognostic impact in patients treated with standard chemotherapy. 29872168 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease CTD_human Cooperative loss of RAS feedback regulation drives myeloid leukemogenesis. 25822087 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease CTD_human Mutant nucleophosmin and cooperating pathways drive leukemia initiation and progression in mice. 21441929 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease BEFREE The NF1 null states were associated with increased Ras-bound GTP, and short hairpin RNA-mediated NF1 suppression in primary AML blasts with wild-type NF1 facilitated colony formation in methylcellulose. 20505189 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE Since the NF1 protein is a negative regulator of the RAS pathway (RAS-GTPase activating protein), homozygous NF1 inactivation represent a novel type I mutation in pediatric MLL-rearranged AML and T-ALL with a predicted frequency that is less than 10%. 18172006 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 AlteredExpression disease LHGDN Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein. 15988004 2005
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 AlteredExpression disease BEFREE Patients with AML who had decreased NF1 protein levels had a slightly longer CRD compared with patients who had normal NF1 levels (P = 0.07). 12518368 2003
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 Biomarker disease BEFREE Finally, we describe a genetic screen for identifying genes that cooperate with Nf1 gene loss during progression to acute myeloid leukaemia. 8563750 1996
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE These results suggest that mutation of the NF1 gene, at least in the FLR exon, is very rare in AML and the NF1 gene probably is not a functional complement of the N-ras gene mutation. 8528106 1995
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.380 GeneticVariation disease BEFREE Neither rearrangement nor deletion was found in any patient, suggesting that gross abnormalities of the NF1 gene must be very rare in MDS and AML. 8182944 1994