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: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 1.000 definitive 0.983 5 0 1993 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.900 definitive 1.000 5 0 1991 2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease 0.800 definitive 1.000 10 0 1994 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease 0.700 definitive 0.981 5 0 1993 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 definitive 1.000 5 0 1993 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.310 disputed 1.000 2 0 2003 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		disease 0.300 definitive 1.000 10 0 1995 2009