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: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 GeneticVariation group BEFREE Merlin has broad tumor-suppressor functions as its mutations have been identified in multiple benign tumors and malignant cancers. 26549023 2016
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 AlteredExpression group BEFREE Vestibular schwannomas are benign tumors originating from the eighth cranial nerve and arise due to inactivation of the NF2 gene and its product merlin. 26049313 2015
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 GeneticVariation group BEFREE Vestibular schwannomas are benign tumors that arise from Schwann cells in the VIII cranial pair and usually present NF2 gene mutations and/or loss of heterozygosity on chromosome 22q. 23776562 2013
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 Biomarker group BEFREE Vestibular schwannomas are histopathologically benign tumors arising from the Schwann cell sheath surrounding the vestibular branch of cranial nerve VIII and are related to the NF2 gene and its product merlin. 21800959 2011
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 GeneticVariation group BEFREE Deficiency of the tumor suppressor protein merlin leads to the development of benign tumors of the nervous system such as schwannomas, ependymomas and meningiomas. 21647202 2011
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 GeneticVariation group BEFREE Vestibular schwannoma (VS) is a benign tumor with malignant biological consequence because of its special location, and its occurrence is highly related to merlin. 17989580 2008
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 Biomarker group BEFREE Loss of the tumor suppressor protein merlin causes a variety of benign tumors such as schwannomas, meningiomas, and gliomas in man. 15837555 2005
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.080 GeneticVariation group BEFREE Germ-line mutations in the neurofibromatosis 2 (NF2) gene cause a susceptibility to the development of schwannoma and meningioma, 2 mostly benign tumors of neural crest origin. 9679758 1998