NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Neurofibromatosis 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE These findings show that <i>NF2</i>/Merlin is also reduced in tumors that do not arise in the context of neurofibromatosis and that induction of its expression might be used to control tumor growth. 31585900 2020
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Inactivation of the tumor suppressor protein Merlin leads to the development of benign nervous system tumors in neurofibromatosis type2 (NF2). 30816526 2019
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Systematic investigation of the pathways impacted by the loss of function of neurofibromin (encoded byNF1) and merlin (encoded byNF2) have led to therapeutic advances for patients with NF1 and NF2. 26851632 2016
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Over the past decade, substantial insight into the biological function of the tumor suppressors neurofibromin (NF1) and Merlin (NF2) has been gained. 25490687 2015
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE The present review brings genetic properties of NF2 gene, molecular characteristics of merlin, summarizes mutational spectra and explains merlin's multifunctional roles regarding its involvement in neurofibromatosis associated tumorigenesis. 23666797 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE With the identification of the NF1 and NF2 genes and the generation of robust preclinical mouse models of NF-associated neoplasms, novel treatments that specifically target the growth control pathways deregulated in these tumours have been discovered, some of which are now being tested in clinical trials in individuals with NF1 and NF2. 23939548 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 GeneticVariation disease BEFREE Clinical characteristics of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) have been extensively described and studied during the last century, and the identification of mutations in the NF1 and NF2 genes by contemporary molecular techniques have created a separate multidisciplinary field in genetic medicine. 22210082 2012
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Molecular sequencing of the NF1 and NF2 genes did not reveal causative mutations. 19966658 2010
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 GeneticVariation disease BEFREE This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations. 12709270 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Recent progress employing novel mouse targeting strategies has begun to illuminate the roles of the NF1 and NF2 gene products in the molecular pathogenesis of NF-associated tumors. 12082543 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 GeneticVariation disease BEFREE Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. 11756780 2002
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 GeneticVariation disease BEFREE Identification of genetic alterations of the NF2 gene in skin tumors may help to identify neurofibromatosis-2-associated skin tumors, thus assisting in the diagnosis of neurofibromatosis 2 in ambiguous cases, and excluding neurofibromatosis 1 in unclear cases. 10771486 2000
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 GeneticVariation disease BEFREE Two tumor types that have been linked to specific gene alterations are schwannomas, which have mutations in the neurofibromatosis (NF) type 2 (NF2) gene, and neurofibromas, which characteristically possess NF type 1 (NF1) gene mutations. 9354454 1997
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease BEFREE Simultaneous involvement of NF1 and NF2 genes, which are located on chromosomes 17q and 22q, respectively, should be investigated at a molecular level in both benign and malignant tumors of peripheral nerves. 8630973 1996
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.300 Biomarker disease MGD