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ENSchwannomatosis (NF3)
Alias:
Neurilemmomatosis
Neurofibromatosis Type 3
Neurinomatosis
Mixed Central and Peripheral Neurofibromatosis
Neurilemmomatosis, Congenital Cutaneous
Nf3 - [neurofibromatosis Type 3]
Multiple Neurilemmomas
Multiple Schwannomas
Neurofibromatosis 3
Schwannomatosis 1
Nf3
Swn
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Schwannomatosis, also known as neurilemmomatosis, is related to schwannomatosis 1 and schwannomatosis 2. An important gene associated with Schwannomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Assembly of the pre-replicative complex and Chromatin organization. The drugs Erenumab and Siltuximab have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and small intestine, and related phenotypes are peripheral schwannoma and spinal cord tumor
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