APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 GeneticVariation disease BEFREE Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor. 27838800 2017
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 Biomarker disease BEFREE Somatic mutations were identified in genes in which constitutional alterations are associated with familial pancreatic ductal adenocarcinoma, such as ATM, BRCA2 and PALB2 (one tumour each), as well as in genes altered in extra-pancreatic neoplasms, such as JAK1 in four tumours (17%), BRAF in three (13%), RB1 in three (13%), APC in two (9%), PTEN in two (9%), ARID1A in two (9%), MLL3 in two (9%) and BAP1 in one (4%). 24293293 2014
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 Biomarker disease BEFREE The presence of normal allelic deletions of the APC gene in bilateral parathyroid tumors and nuclear staining of beta-catenin in the pancreatic tumor in addition to the germline mutations suggests that functional loss of the APC gene played an important role not only in familial adenomatous polyposis but also in the MEN1-related tumors in this case. 11756777 2002
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 Biomarker disease HPO
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 CausalMutation disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.430 GenomicAlterations disease CGI