rs587783057, MUTYH

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR MUTYH associated polyposis coli: one common and one rare mutation. 22402879 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. 19245865 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. 19245865 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 17949294 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 17219385 2007
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 17219385 2007
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 17949294 2007
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005