Gene: NF1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. 29449315 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. 29673180 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. 28068329 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. 28706617 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes. 28529006 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. 28961165 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. 26840085 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Immortalization of human normal and NF1 neurofibroma Schwann cells. 27617404 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family. 27234610 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene. 26331193 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease 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
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene. 27999334 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. 26969325 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China. 26962827 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease 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
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children. 26458495 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. 27482814 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease CLINVAR Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 25074460 2015