Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 1324223

1992

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. 7906810

1994

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families. 8118461

1994

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Alleles of the APC gene: an attenuated form of familial polyposis. 8252630

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579

1993

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. 8625067

1995

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR We screened the entire coding region of the APC gene for mutations in an unselected series of 105 Dutch FAP kindreds. 8990002

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms. 9298819

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Alternative genetic pathways in colorectal carcinogenesis. 9342373

1997

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Genotype-phenotype correlations in attenuated adenomatous polyposis coli. 9585611

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene. 9664575

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. 10077047

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. 10083733

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. 10094547

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. 10213492

1999

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 10713886

2000

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity. 11247895

2001

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. 12007223

2002

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 CausalMutation CLINVAR Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. 12172928

2002