NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 GeneticVariation disease BEFREE Interestingly, biallelic NF2 gene inactivation is one of the most common mutations associated with the development of malignant mesothelioma (MM), a highly fatal malignancy that arises in the pleura and less frequently in the pericardium, peritoneum, and tunica vaginalis. 31567203 2020
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 GeneticVariation disease BEFREE MM is a very aggressive tumor associated with asbestos exposure, and genetic alterations in <i>NF2</i> that abrogate merlin's functional activity are found in about 40% of MMs, indicating the importance of <i>NF2</i> inactivation in MM development and progression. 29587439 2018
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease CTD_human Long-Fiber Carbon Nanotubes Replicate Asbestos-Induced Mesothelioma with Disruption of the Tumor Suppressor Gene Cdkn2a (Ink4a/Arf). 29112861 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease CTD_human Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. 26928227 2016
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease CTD_human Flaxseed lignans enriched in secoisolariciresinol diglucoside prevent acute asbestos-induced peritoneal inflammation in mice. 26678224 2016
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease CTD_human Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing. 26463840 2016
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease CTD_human Differential mutation profiles and similar intronic TP53 polymorphisms in asbestos-related lung cancer and pleural mesothelioma. 23435014 2013
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 GeneticVariation disease BEFREE Nearly 75% of MM cases have inactivating mutations in the NF2 (neurofibromatosis type 2; Merlin) gene or in downstream signaling molecules of the Hippo signaling cascade, which negatively regulates the transcription factor Yes-associated protein (YAP). 22329991 2012
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 Biomarker disease BEFREE Dysregulation of the Merlin-Hippo signaling cascade is one of the frequent and key events of MM cell development and/or progression. 21615608 2011
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 AlteredExpression disease BEFREE Analysis of a panel of malignant mesothelioma cell lines reveals a strong correlation between loss of merlin and activation of mTORC1. 19451229 2009
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 AlteredExpression disease BEFREE Collectively, these findings suggest that merlin inactivation is a critical step in MM pathogenesis and is related, at least in part, with upregulation of FAK activity. 16652148 2006
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 GeneticVariation disease BEFREE Inactivating mutations of the neurofibromatosis type 2 (NF2) tumor suppressor gene merlin have been described in nearly 60% of primary malignant mesothelioma and in approximately 20% of the mesothelioma cell lines. 12673723 2003
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 GeneticVariation disease BEFREE To study if LOH of the NF2 gene is a consistent feature in MM, we performed a more detailed analysis of chromosome 22q that included a NF2 marker (NF2CA3). 12168054 2003
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.390 AlteredExpression disease BEFREE Consequently, the disruptions due to merlin inactivation in the progression of malignant mesothelioma may represent a tumor suppressor role operating by a different pathway than that in schwannoma or meningioma. 10214350 1999