APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Colorectal Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782868
rs587782868
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC. 15987719 2005
dbSNP: rs587782868
rs587782868
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166 2004