NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Disease: Juvenile Myelomonocytic Leukemia ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker disease CTD_human Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. 26457648 2015
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker disease CTD_human The genomic landscape of juvenile myelomonocytic leukemia. 26457647 2015
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation disease ORPHANET Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011 2013
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 Biomarker disease CTD_human Genetic disruption of the PI3K regulatory subunits, p85α, p55α, and p50α, normalizes mutant PTPN11-induced hypersensitivity to GM-CSF. 22315502 2012
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation disease ORPHANET Molecular basis of juvenile myelomonocytic leukemia. 20139388 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation disease ORPHANET Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009