APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272 2005
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272 2005
dbSNP: rs1463038513
rs1463038513
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603 1999
dbSNP: rs1801155
rs1801155
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603 1999
dbSNP: rs121913331
rs121913331
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258 2017
dbSNP: rs1288422703
rs1288422703
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258 2017
dbSNP: rs1441008398
rs1441008398
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258 2017
dbSNP: rs876660427
rs876660427
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009375
Disease:
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258 2017