Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 18030674

2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. 16204034

2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197

2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 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: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 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: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 14574005

2001
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 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: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 Biomarker CLINGEN Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.560 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: 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: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. 18409202

2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
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 Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors. 18593904

2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 18030674

2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. 17259933

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 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678

2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		0.340 Biomarker CLINGEN A homozygous mutation in MSH6 causes Turcot syndrome. 16000562

2005
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: 2956
Gene Symbol: MSH6
MSH6
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: 2956
Gene Symbol: MSH6
MSH6
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