NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Legius syndrome in fourteen families. 21089071 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. 16542390 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531 1991
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease BEFREE Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. 9654211 1998
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749 2007
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Neurofibromatosis type 1 revisited. 19117870 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006 2008