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: rs1019221239
rs1019221239
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1019221239
rs1019221239
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1019221239
rs1019221239
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302 1997
dbSNP: rs1048798213
rs1048798213
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE PBRM1 p.L641V was detected in the plasma sample of the ccRCC patient with an allele frequency of 0.2%. 30986100 2019
dbSNP: rs1057517544
rs1057517544
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
dbSNP: rs1057517553
rs1057517553
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Eleven novel APC mutations identified in Portuguese FAP families. 10923044 2000
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091 1994
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 0.700 CausalMutation CLINVAR Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 26309368 2015
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		T 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
dbSNP: rs1057517558
rs1057517558
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0025149
Disease:
Medulloblastoma 		0.010 GeneticVariation BEFREE The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Pro1319Leu substitution. 11433413 2001
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation 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
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation 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
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039 2005
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation 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
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959 2004
dbSNP: rs1057517559
rs1057517559
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959 2004
dbSNP: rs1057517561
rs1057517561
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120 2011
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584 1998
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610 1992
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347 2007
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 GeneticVariation 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
dbSNP: rs1057517568
rs1057517568
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2713442
Disease:
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579 1993