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 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 23401320 2013
Neurofibromatosis, Type 3, mixed central and peripheral
0.300 GermlineCausalMutation disease ORPHANET Germline mutation of INI1/SMARCB1 in familial schwannomatosis. 17357086 2007