Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.300 GermlineCausalMutation disease ORPHANET Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. 23282968 2013
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.300 GermlineCausalMutation disease ORPHANET Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622 2013
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.300 GermlineCausalMutation disease ORPHANET A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations. 21997697 2011
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.300 GermlineCausalMutation disease ORPHANET SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 21505157 2011