Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN A murine model of neurofibromatosis type 2 that accurately phenocopies human schwannoma formation. 25113746

2015

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. 19451225

2009

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Re-expression of the tumor suppressor NF2/merlin inhibits invasiveness in mesothelioma cells and negatively regulates FAK. 16652148

2006

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. 12118253

2002

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. 10887156

2000

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. 9553042

1998

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. 8751853

1996

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development. 7795605

1995

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN To define the molecular basis of NF2 in affected individuals, we have used SSCP analysis to scan the exons of the NF2 gene from 33 unrelated patients with NF2. 7913580

1994

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN We conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare. 7913580

1994