CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Neurofibromatosis 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		0.010 Biomarker disease BEFREE WES analysis of the atypical tumor identified deleterious mutations in two genes: ADAMTSL3 and CAPN5 in all fragments, indicating that the mutations were present in the cell undergoing fast clonal expansion CONCLUSIONS: This is the first WES study of NF2-associated meningiomas. 28193203 2017