NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibromatosis 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922 2014
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135 2014
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643 2013
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856 2011
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 17636453 2007
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 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: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469 2004
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408 2004
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 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: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402 2003
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569 2003
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. 11258625 2001
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834 2000
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. 10862084 2000
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		G 0.800 CausalMutation CLINVAR Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. 10543400 1999
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168 1998
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739 1997
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829 1997
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501 1997
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300 1997
dbSNP: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 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: rs137854557
rs137854557
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994