DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Gene: APC ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Gastric cancer in FAP: a concerning rise in incidence.

28185118

2017

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

28135145

2017

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

28125075

2017

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

28533537

2017

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

26446593

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.

26625971

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.

26314409

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.

26840078

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

27146957

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Immunohistochemical analysis of the Wnt/β-catenin signaling pathway in pancreatic neuroendocrine neoplasms.

27574554

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

27153395

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

26613750

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Clinicopathological features of familial adenomatous polyposis in Korean patients.

27158207

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

The APC I1307K allele conveys a significant increased risk for cancer.

26421687

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

27000756

2016

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.

26300997

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features.

25832318

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation.

27081525

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Tumor genome analysis includes germline genome: are we ready for surprises?

25123297

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

25980754

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis.

26422110

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

25590978

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.110

CausalMutation

group

CLINVAR

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

26023681

2015