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 CausalMutation CLINVAR Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. 27862945

2017

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

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1. 26908603

2017

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 CausalMutation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2016

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

2016

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

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Exploring the genetic basis for clinical variation in neurofibromatosis type 1. 27171602

2016

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

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging. 26973730

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience. 27305697

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1. 25480383

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? 25074460

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1. 26514327

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. 25788518

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. 25293717

2016

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

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR NF1 Mutations Are Common in Desmoplastic Melanoma. 26076063

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR [Phenotypic and genetic features in neurofibromatosis type 1 in children]. 25541118

2015

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 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2015