Source: ALL

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: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 439 95 1976 2020
Entrez Id: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.160 None 1.000 7 20 2012 2019
Entrez Id: 50808
Gene Symbol: AK3
AK3 		adenylate kinase 3 0.691 0.462 1.1E-04
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.100 None 0.981 53 2 1987 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.100 None 0.909 22 0 1976 2020
Entrez Id: 17
Gene Symbol: AAVS1
AAVS1 		adeno-associated virus integration site 1 0.595 0.731
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.090 None 1.000 9 0 2002 2017
Entrez Id: 2147
Gene Symbol: F2
F2 		coagulation factor II, thrombin 0.415 0.885 1.1E-03
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.080 None 0.875 8 0 1980 2018
Entrez Id: 2152
Gene Symbol: F3
F3 		coagulation factor III, tissue factor 0.415 0.846 1.9E-02
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.060 None 1.000 6 0 2006 2017
Entrez Id: 213
Gene Symbol: ALB
ALB 		albumin 0.317 0.962 0.64
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.050 None 1.000 5 0 2015 2019
Entrez Id: 1950
Gene Symbol: EGF
EGF 		epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.050 None 1.000 5 0 1986 2003
Entrez Id: 2153
Gene Symbol: F5
F5 		coagulation factor V 0.441 0.846 5.9E-15
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.030 None 1.000 3 0 1995 2006
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1 		single-strand-selective monofunctional uracil-DNA glycosylase 1 0.322 0.923 4.5E-04
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 7035
Gene Symbol: TFPI
TFPI 		tissue factor pathway inhibitor 0.486 0.808 0.25
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 6768
Gene Symbol: ST14
ST14 		suppression of tumorigenicity 14 0.514 0.769 0.56
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 1993 1997
Entrez Id: 27102
Gene Symbol: EIF2AK1
EIF2AK1 		eukaryotic translation initiation factor 2 alpha kinase 1 0.633 0.577 7.0E-07
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 275
Gene Symbol: AMT
AMT 		aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 54535
Gene Symbol: CCHCR1
CCHCR1 		coiled-coil alpha-helical rod protein 1 0.505 0.808 1.0E-16
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 10682
Gene Symbol: EBP
EBP 		EBP cholestenol delta-isomerase 0.494 0.846 0.94
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 1990 1993
Entrez Id: 9034
Gene Symbol: CCRL2
CCRL2 		C-C motif chemokine receptor like 2 0.621 0.654 0.37
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 6700
Gene Symbol: SPRR2A
SPRR2A 		small proline rich protein 2A 0.612 0.731
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 653820
Gene Symbol: FAM72B
FAM72B 		family with sequence similarity 72 member B 0.705 0.385 1.4E-03
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 65065
Gene Symbol: NBEAL1
NBEAL1 		neurobeachin like 1 0.638 0.692 5.1E-33
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 1985 1985
Entrez Id: 952
Gene Symbol: CD38
CD38 		CD38 molecule 0.407 0.885 2.3E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 60496
Gene Symbol: AASDHPPT
AASDHPPT 		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 0.890 0.192 3.4E-02
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 0.010 None 1.000 1 0 2004 2004