Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN MSH2 deficient mice are viable and susceptible to lymphoid tumours. 7550317

1995
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. 9500552

1998
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. 9500552

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1. 9927033

1999
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 10763829

2000
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 10763829

2000
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 10763829

2000
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 10763829

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Autopsy tissues from a 4-year-old with congenital MMR deficiency (MLH1-/-) were examined for MS mutations. 11389087

2001
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Early onset brain tumor and lymphoma in MSH2-deficient children. 12549480

2003
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 14574005

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. 14762794

2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Furthermore, in the family with Turcot syndrome, in which the first inherited PMS2 mutation (R134X) was described, a further truncating mutation was identified on the other allele, in exon 13. 15077197

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 15139004

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 15340263

2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 15340263

2004