Source: GENOMICS_ENGLAND

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: 3818
Gene Symbol: KLKB1
KLKB1 		kallikrein B1 0.604 0.692 6.3E-13
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.320 strong 1.000 1 0 1974 2017
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.310 strong 1.000 1 0 2003 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.310 strong 1.000 1 0 2002 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.310 strong 1.000 1 0 2006 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		collagen type V alpha 2 chain 0.568 0.731 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.300 strong 1.000 1 0 1998 1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.300 strong 0 0