Source: ORPHANET

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: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.520 definitive 1.000 1 0 1995 2015
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 2 0 1993 2016
Entrez Id: 22909
Gene Symbol: FAN1
FAN1 		FANCD2 and FANCI associated nuclease 1 0.610 0.577 1.7E-25
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 limited 1.000 1 0 2010 2016
Entrez Id: 27030
Gene Symbol: MLH3
MLH3 		mutL homolog 3 0.582 0.538 4.9E-08
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 moderate 1.000 1 0 2003 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.500 definitive 1.000 1 0 1994 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 1.000 2 0 2012 2015
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM 		epithelial cell adhesion molecule 0.451 0.885 1.3E-07
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 1.000 2 0 2011 2013
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 5378
Gene Symbol: PMS1
PMS1 		PMS1 homolog 1, mismatch repair system component 0.569 0.654 1.3E-17
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 None 0 0