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 Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 19101824

2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations. 17601929

2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker CLINGEN A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. 16372347

2006
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: 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: 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 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 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 MSH2 deficient mice are viable and susceptible to lymphoid tumours. 7550317

1995