MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CTD_human
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Adaptive variation in environmental and genetic sex determination in a fish. 3561487 1987
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR [Two cases of allergic granulomatosis and angiitis (AGA); Churg-Strauss syndrome]. 2084865 1990
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease CLINVAR Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage. 9611236 1998
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. 11092888 2001
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease CLINVAR hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs. 11433026 2001
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs. 11433026 2001
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CLINGEN Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. 11801590 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease CLINVAR Replication-associated repair of adenine:8-oxoguanine mispairs by MYH. 11864576 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Replication-associated repair of adenine:8-oxoguanine mispairs by MYH. 11864576 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CLINGEN Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CLINGEN Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CLINGEN Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. 11801590 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease UNIPROT Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease UNIPROT Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease CLINVAR Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. 12707038 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation disease CLINVAR Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. 12707038 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease CLINVAR Mutator phenotype of MUTYH-null mouse embryonic stem cells. 12917422 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease CLINGEN Mutator phenotype of MUTYH-null mouse embryonic stem cells. 12917422 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker disease GENOMICS_ENGLAND Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198 2003
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation disease BEFREE Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198 2003