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 The FERM domain protein Merlin, encoded by the NF2 tumor suppressor gene, regulates cell proliferation in response to adhesive signaling. 24726726

2014

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 The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. 9171370

1997

Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
1.000 Biomarker CLINGEN The NF2 gene has been cloned from chromosome 22q; most identified germ-line mutations result in a truncated protein and severe NF2. 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 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