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 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 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 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 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994
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 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 Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 12522551 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408 2004
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online. 10220149 1999
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 We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. 12552569 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation disease UNIPROT A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501 1997