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: 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 GeneticVariation disease UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608 1992
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. 9150739 1997
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 The RASopathies. 23875798 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220 1990
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 8807336 1996
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. 11857752 2002
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Neurofibromatosis type 1 growth charts. 10588837 1999
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501 1997
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 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 Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. 8544190 1995
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. 8563750 1996
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 Biomarker disease GENOMICS_ENGLAND Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). 12707950 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387 1994
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300 1997
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197 2000
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 11258625 2001
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 GeneticVariation disease UNIPROT We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites. 10980545 2000