Source: HPO

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: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.200 None 1.000 0 0 2016 2020
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 140628
Gene Symbol: GATA5
GATA5 		GATA binding protein 5 0.578 0.615 0.28
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 54538
Gene Symbol: ROBO4
ROBO4 		roundabout guidance receptor 4 0.641 0.615 2.9E-15
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2 		nuclear receptor subfamily 2 group F member 2 0.575 0.692 0.99
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 78987
Gene Symbol: CRELD1
CRELD1 		cysteine rich with EGF like domains 1 0.670 0.269 1.3E-11
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2 		ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG 		N-acetylglucosamine-1-phosphate transferase subunit gamma 0.705 0.423 4.6E-09
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		solute carrier family 2 member 10 0.550 0.615 1.6E-08
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 79753
Gene Symbol: SNIP1
SNIP1 		Smad nuclear interacting protein 1 0.682 0.462 0.42
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6 		SMAD family member 6 0.579 0.731 3.6E-20
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease 0.100 None 0 0