Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Independent NF1 mutations in two large families with spinal neurofibromatosis. 12566521

2003

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495

2012

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas. 12387455

2002

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. 17426081

2007

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. 25966637

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR NF1 gene analysis based on DHPLC. 12552569

2003

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice. 24710307

2014

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919

2005

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 26178382

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Listening to silence and understanding nonsense: exonic mutations that affect splicing. 11967553

2002

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. 17726231

2007

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. 14569132

2003

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation 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

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Advances in Molecular Diagnosis of Neurofibromatosis Type 1. 26706011

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. 17311297

2007

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. 16479075

2006

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Two independent mutations in a family with neurofibromatosis type 1 (NF1). 10076878

1999