NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation BEFREE Computational insights of K1444N substitution in GAP-related domain of NF1 gene associated with neurofibromatosis type 1 disease: a molecular modeling and dynamics approach. 29804243 2018
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922 2014
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643 2013
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856 2011
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.810 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366 2008
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469 2004
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation 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
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124 2004
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408 2004
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569 2003
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402 2003
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168 1998
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501 1997
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829 1997
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739 1997
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300 1997
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. 8834249 1996
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387 1994
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608 1992
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.810 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220 1990
dbSNP: rs199474750
rs199474750
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs137854566
rs137854566
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338 2018
dbSNP: rs199474747
rs199474747
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338 2018