NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Neurofibromatosis-Noonan syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. 26758488 2016
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. 24357598 2014
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GermlineCausalMutation disease ORPHANET Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family. 22847776 2012
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. 22965773 2012
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE The association of both disorders is called neurofibromatosis-Noonan syndrome (NFNS), a disorder that has been related to mutations in the NF1 gene. 21365175 2011
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691 2009
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE The phenotypic overlap was explained by the involvement of the Ras pathway in both disorders, and, accordingly, clustering of the NF1 mutations in the GTPase-activating protein (GAP) domain of neurofibromin was observed in individuals with NFNS. 19449407 2009
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease UNIPROT Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. 19845691 2009
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE One patient with neurofibromatosis-Noonan syndrome had a mutation in both the PTPN11 and NF1 genes. 17020470 2006
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. 16380919 2005
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease UNIPROT These results support the view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals. 16380919 2005
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease BEFREE We have used a new, rapid sequence analysis technique-comparative sequence analysis (CSA)-to examine the NF1 gene in six patients with NFNS. 12707950 2003
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND We have used a new, rapid sequence analysis technique-comparative sequence analysis (CSA)-to examine the NF1 gene in six patients with NFNS. 12707950 2003
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease UNIPROT We have used a new, rapid sequence analysis technique-comparative sequence analysis (CSA)-to examine the NF1 gene in six patients with NFNS. 12707950 2003
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease GENOMICS_ENGLAND Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. 11704931 2001
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 GeneticVariation disease CLINVAR
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		0.780 Biomarker disease CTD_human