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: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
0.320 Biomarker disease CTD_human Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 23334667 2013
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
0.320 GeneticVariation disease BEFREE Most of these cases display NF2 gene mutations parallel to loss of the chromosome 22 homolog, indicating that inactivation of this gene may represent an early event in the development of multiple meningiomas. 11979381 2002
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple
0.320 GeneticVariation disease BEFREE To understand the mechanism by which multiple meningiomas arise, the authors analyzed DNA from 39 multiple meningiomas in 12 patients to locate alterations in the neurofibromatosis type 2 (NF2) gene. 9126902 1997