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: 1991
Gene Symbol: ELANE
ELANE
elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.500 None 0.967 24 0 2001 2020
Entrez Id: 84522
Gene Symbol: JAGN1
JAGN1
jagunal homolog 1 0.839 0.115 7.4E-03
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.410 None 1.000 1 0 2014 2019
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
colony stimulating factor 3 0.377 0.885 0.38
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.400 None 0.949 144 0 1987 2020
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.400 None 0.907 75 1 2004 2020
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.400 None 0.938 16 4 2006 2019
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
growth factor independent 1 transcriptional repressor 0.546 0.769 0.25
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.380 None 0.875 8 0 2003 2020
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.370 None 1.000 7 6 2000 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
colony stimulating factor 2 0.330 0.962 0.83
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.370 None 0.889 7 0 1993 2017
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
thiopurine S-methyltransferase 0.593 0.692 7.1E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.350 None 1.000 5 0 2006 2020
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.340 None 1.000 4 0 2012 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.340 None 1.000 4 1 2009 2018
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2
interferon alpha 2 0.442 0.885
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.310 None 1.000 1 0 1991 2018
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
glucose-6-phosphatase catalytic subunit 3 0.606 0.731 4.7E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.200 None 1.000 14 0 2009 2020
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R
colony stimulating factor 3 receptor 0.550 0.692 1.5E-10
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.200 None 1.000 9 0 1996 2020
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
solute carrier family 37 member 4 0.617 0.654 1.7E-05
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.170 None 0.857 7 3 2004 2020
Entrez Id: 10456
Gene Symbol: HAX1
HAX1
HCLS1 associated protein X-1 0.631 0.577 8.5E-08
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.170 None 1.000 4 0 2007 2019
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CD40 ligand 0.414 0.846 0.72
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.160 None 1.000 6 0 1997 2019
Entrez Id: 7454
Gene Symbol: WAS
WAS
WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.160 None 1.000 5 1 2002 2018
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.150 None 1.000 5 0 2002 2018
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.140 None 1.000 4 1 2007 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.130 None 0.333 3 0 2012 2017
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.130 None 0.667 3 0 2010 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.120 None 1.000 2 1 2007 2010
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.120 None 1.000 2 0 2008 2019
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease 0.120 None 1.000 2 0 2009 2016