Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677

2017

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488

2016

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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

2015

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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

2013

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592

2012

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Increased risk of breast cancer in women with NF1. 23165953

2012

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Legius syndrome in fourteen families. 21089071

2011

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710

2011

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Neurofibromatosis type 1 revisited. 19117870

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Neurofibromatosis type 1. 19539839

2009

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.110 CausalMutation CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749

2007