rs34612342, MUTYH

N. diseases: 32
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
0.800 GeneticVariation CLINVAR
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.710 CausalMutation CLINVAR
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
0.700 CausalMutation CLINVAR
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.700 CausalMutation CLINVAR
Skin Neoplasms
CUI: C0037286
Disease: Skin Neoplasms
0.700 CausalMutation CLINVAR
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.700 CausalMutation CLINVAR
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.700 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 CausalMutation CLINVAR
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 GeneticVariation BEFREE MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410 2010
Adenoma
CUI: C0001430
Disease: Adenoma
0.030 GeneticVariation BEFREE A multivariable model showed positive correlation between G396D, Y179C and 1186 ins GG mutations and number of adenomas (OR 8.6, 10.2 and 14.4, respectively). 25822476 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313 2009
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.020 GeneticVariation BEFREE Among patients with multiple adenomas, biallelic MYH mutations account for approximately 30% of APC mutation negative cases and two thirds of these carry mutations other than the "common" Y165C and G382D variants. 17219385 2007
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer. 27631816 2017
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE Association tests demonstrated an increased odds ratio (OR) for CRC in carriers of the p.Tyr165Cys risk allele among fCRC patients, as compared to sporadic CRC patients and controls (OR 2.38; p=0.03). 18503156 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836 2014
Sebaceous Adenocarcinoma
CUI: C0206684
Disease: Sebaceous Adenocarcinoma
0.010 GeneticVariation BEFREE Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma. 24518836 2014
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
0.020 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166 2004
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.800 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166 2004