Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis, Type 3, mixed central and peripheral
0.300 GermlineCausalMutation disease ORPHANET Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 17357086 2007
Neurofibromatosis, Type 3, mixed central and peripheral
0.300 GermlineCausalMutation disease ORPHANET Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 23401320 2013