Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 Biomarker disease MGD
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 AlteredExpression disease BEFREE Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by schwannomas and meningiomas that develop after inactivation of both copies of the NF2 gene. 11085592 2000
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer predisposition syndrome that is caused bymutations in the NF2 gene. 12116319 2002
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. 12444102 2002
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
0.010 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. 12444102 2002
Entrez Id: 9146
Gene Symbol: HGS
HGS
0.010 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. 12444102 2002
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
0.010 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. 12444102 2002
Entrez Id: 6430
Gene Symbol: SRSF5
SRSF5
0.010 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. 12444102 2002
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.020 GeneticVariation disease BEFREE Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well. 15190457 2004
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 Biomarker disease BEFREE Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L. 15598747 2004
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder caused by mutations in the NF2 gene and predisposing to the development of nervous system. 18554169 2008
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE Neurofibromatosis 2 (NF2) is an autosomal-dominant disease caused by genetic mutations of the NF2 gene on chromosome 22. 21906157 2012
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the NF2 gene on chromosome 22q12.2. 22436304 2012
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is an autosomal dominant inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. 23931824 2013
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. 24667735 2014
Entrez Id: 10413
Gene Symbol: YAP1
YAP1
0.030 AlteredExpression disease BEFREE NF2 also controlled the expression of YAP targets, including cysteine-rich angiogenic inducer 61 (CYR61/CCN1), by regulating the nuclear localization of YAP. 26923924 2016
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. 27655473 2017
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. 29130106 2017
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a tumor-forming disease of the nervous system caused by deletion or by loss-of-function mutations in NF2, encoding the tumor suppressing protein neurofibromin 2 (also known as schwannomin or merlin). 29626191 2018
Entrez Id: 84260
Gene Symbol: TCHP
TCHP
0.020 AlteredExpression disease BEFREE Neurofibromatosis type 2 tumor suppressor protein is expressed in oligodendrocytes and regulates cell proliferation and process formation. 29715273 2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
0.100 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. 31425178 2019
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. 31425178 2019
Entrez Id: 4771
Gene Symbol: NF2
NF2
1.000 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2), an inherited disorder associated with multiple inherited schwannomas, meningiomas and ependymomas is caused by an autosomal dominant, likely loss of function germline mutation of the NF2 gene. 31567203 2020