Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. 29673180

2018

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. 28706617

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 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

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 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

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation CLINVAR Immortalization of human normal and NF1 neurofibroma Schwann cells. 27617404

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children. 26458495

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation 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
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 CausalMutation CLINVAR Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. 27074763

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1.000 GeneticVariation 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