Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease 0.800 definitive 0.968 12 0 1997 2019
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.800 definitive 0.987 9 0 1988 2020
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease 0.700 definitive 0.977 9 0 1988 2020
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.640 definitive 1.000 9 0 1991 2017
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.520 definitive 1.000 9 0 1995 2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		disease 0.340 definitive 1.000 12 0 1997 2019
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.310 disputed 1.000 4 0 2002 2018