NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 Biomarker group GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922 2014
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643 2013
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease CTD_human Ras signaling pathways mediate NGF-induced enhancement of excitability of small-diameter capsaicin-sensitive sensory neurons from wildtype but not Nf1+/- mice. 21501659 2011
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856 2011
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin. 21089070 2011
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 Biomarker group CTD_human ALTERED CALCIUM CURRENTS AND AXONAL GROWTH IN Nf1 HAPLOINSUFFICIENT MICE. 21949590 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		1.000 SomaticCausalMutation disease ORPHANET Molecular basis of juvenile myelomonocytic leukemia. 20139388 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691 2009
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
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 Biomarker group GENOMICS_ENGLAND Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 18772890 2008
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. 17160901 2007
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. 17668375 2007
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? 16735498 2006
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469 2004
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Inherited interstitial lung disease. 15331184 2004
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 15523642 2004
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408 2004