Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.420 GeneticVariation disease BEFREE We report the case of a 16-year-old female with duodenal adenocarcinoma and past history of medulloblastoma found to have a novel germline bialleleic truncating mutation (c.[949C>T]+[949C>T]) of the PMS2 gene. 19283792 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.420 Biomarker disease HPO
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.420 CausalMutation disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.420 GeneticVariation disease BEFREE Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2. 23582141 2013