MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs587782228
rs587782228
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
dbSNP: rs730881833
rs730881833
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs730881833
rs730881833
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs747993448
rs747993448
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 26511139 2015
dbSNP: rs769237459
rs769237459
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs876659676
rs876659676
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162 2014
dbSNP: rs143353451
rs143353451
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014