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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. 26635368 2016
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474 2016
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474 2016
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer. 24951259 2015
dbSNP: rs137854556
rs137854556
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: rs137854556
rs137854556
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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742 2013
dbSNP: rs137854556
rs137854556
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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869 2013
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869 2013
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643 2013
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134 2012
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. 22807134 2012
dbSNP: rs137854556
rs137854556
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: rs137854556
rs137854556
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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 19221814 2009
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. 19221814 2009
dbSNP: rs137854556
rs137854556
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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. 16513807 2006
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 16479075 2006
dbSNP: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		A 0.800 CausalMutation CLINVAR The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 16479075 2006
dbSNP: rs137854556
rs137854556
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: rs137854556
rs137854556
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease:
Neurofibromatosis 1 		C 0.800 CausalMutation CLINVAR 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: rs137854556
rs137854556
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: rs137854556
rs137854556
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