Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 22692065

2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. 14762794

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 15139004

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 15340263

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 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: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Extensive somatic microsatellite mutations in normal human tissue. 11389087

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 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: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 9927033

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. 9500552

1998