rs121913331, APC

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations. 24664542 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 22987206 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing. 23700467 2013
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients. 21901162 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072 2011
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668 2010
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Somatic mutations affect key pathways in lung adenocarcinoma. 18948947 2008
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147 2005
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091 1994
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. 1338764 1992
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. 1338764 1992
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR [The effect of occlusion time in the measurement of compliance and resistance of the respiratory system using passive expiration in infants]. 2281069 1990
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.700 CausalMutation CLINVAR
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC. 17653897 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.020 GeneticVariation BEFREE Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC. 17653897 2007
Colonic Neoplasms
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
Neoplasms
CUI: C0027651
Disease: 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