Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910

2014

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. 23354915

2013

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1998

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A prospective study of neurofibromatosis type 1 cancer incidence in the UK. 16786042

2006

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006

2008

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495

2013

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation 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: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390

2006

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125

2014

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468

2010

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749

2007

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 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

2017