Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC E1317Q variant is associated with colorectal neoplasia, particularly colorectal adenomas, but further studies are still needed. 19474113 2009
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. 19701947 2009
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, but data are lacking in Asians. 15266213 2005
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE In conclusion, our results confirm that only a very small fraction of colorectal adenomas may be associated with the presence of E1317Q. 12537656 2002
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.050 GeneticVariation BEFREE E1317Q is significantly associated with multiple colorectal adenomas (OR = 11. 11001924 2000