Source: CLINVAR

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: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.500 None 0.990 1 10 1988 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.500 None 0.966 0 1 1991 2020
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.500 None 1.000 0 1 2005 2018
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.500 None 0.948 0 3 1992 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.470 None 0.857 0 2 2001 2009
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 0.964 2 7 1998 2020
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 0.960 0 1 1999 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 0.981 0 5 1988 2019
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 1.000 0 1 2011 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.200 None 0.943 0 1 1998 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.140 None 1.000 0 1 2004 2019
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.120 None 1.000 0 1 2008 2010
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13 		homeobox B13 0.573 0.462 3.7E-08
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.120 None 1.000 0 1 2010 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.120 None 1.000 0 2 2010 2019
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		F-box protein 11 0.604 0.692 1.00
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.100 None 1.000 2 7 2012 2013