Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
0.010 GeneticVariation disease BEFREE Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. 28600700 2018