Disease: Polyp of large intestine ×
Source: ALL
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 		0.120 GeneticVariation disease BEFREE Using a custom next-generation sequencing panel, we sequenced the exonuclease domains of POLE and POLD1 in 332 index patients diagnosed with multiple colorectal polyps without germline alteration in colorectal polyposis predisposing genes. 30827058 2019
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.120 GeneticVariation disease BEFREE Phenotypic data from these and previously reported POLE/POLD1 carriers point to an associated phenotype characterized by attenuated or oligo-adenomatous colorectal polyposis, CRC, and probably brain tumors. 26133394 2016
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.120 Biomarker disease HPO