Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487

2013
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis. 8395941

1993
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. 8162022

1994
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families. 19768578

2010
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851

2004
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer? 21859464

2011
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? 16317745

2006
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation? 18629394

2008
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients with colorectal polyps. 10938175

2000
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. 14961559

2003
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677

2013
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Inflammatory bowel disease and familial adenomatous polyposis. 22809634

2013
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A survey of APC mutations in Quebec. 21779980

2011
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. 17135276

2007
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. 8730280

1996
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593

2016
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120

2011
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Single cell analysis of mutations in the APC gene. 19828935

2009
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree]. 16883523

2006
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype. 20033787

2010