Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Replication-associated repair of adenine:8-oxoguanine mispairs by MYH. 11864576 2002
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis. 18422726 2008
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease UNIPROT Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR MutYH (MYH) and colorectal cancer. 16042573 2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease UNIPROT MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Mutator phenotype of MUTYH-null mouse embryonic stem cells. 12917422 2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease UNIPROT Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411 2008
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. 17703316 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population. 18271935 2008
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. 15761860 2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 15931596 2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. 17219385 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. 11092888 2001
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease UNIPROT Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010