MSH6, mutS homolog 6, 2956

N. diseases: 29; N. variants: 619
Disease: Turcot syndrome (disorder) ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GermlineCausalMutation disease ORPHANET Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. 23483711 2013
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GermlineCausalMutation disease ORPHANET Constitutional mismatch repair-deficiency syndrome. 20442441 2010
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. 18409202 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 18030674 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904 2008
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. 17259933 2007
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 15340263 2004
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679 2002
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 10763829 2000
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034 1999
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease CTD_human
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND