severe congenital neutropenia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (Human Disease Ontology, DOID_0050590)
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Genes

77 genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HAX1 HCLS1 associated protein X-1 2.81216
CSF3R colony stimulating factor 3 receptor (granulocyte) 2.59565
G6PC3 glucose 6 phosphatase, catalytic, 3 2.47895
ELANE elastase, neutrophil expressed 2.37318
GFI1 growth factor independent 1 transcription repressor 2.09618
LEF1 lymphoid enhancer-binding factor 1 1.42279
CSF3 colony stimulating factor 3 (granulocyte) 1.41446
JAGN1 jagunal homolog 1 (Drosophila) 1.36074
ZC3H18 zinc finger CCCH-type containing 18 1.22128
G6PC glucose-6-phosphatase, catalytic subunit 1.14772
HCLS1 hematopoietic cell-specific Lyn substrate 1 1.11603
AP3B1 adaptor-related protein complex 3, beta 1 subunit 1.07236
PAXBP1 PAX3 and PAX7 binding protein 1 1.0585
LLGL2 lethal giant larvae homolog 2 (Drosophila) 0.977585
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) 0.915551
DLG2 discs, large homolog 2 (Drosophila) 0.91061
CD34 CD34 molecule 0.878195
SBDS Shwachman-Bodian-Diamond syndrome 0.870825
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 0.849126
WAS Wiskott-Aldrich syndrome 0.746798
IL3 interleukin 3 0.698313
NLK nemo-like kinase 0.69751
CISH cytokine inducible SH2-containing protein 0.695905
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.649718
CAMP cathelicidin antimicrobial peptide 0.619051
GFI1B growth factor independent 1B transcription repressor 0.58433
USB1 U6 snRNA biogenesis 1 0.580439
SETBP1 SET binding protein 1 0.574994
STAT5A signal transducer and activator of transcription 5A 0.520731
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 0.479047
STAT1 signal transducer and activator of transcription 1, 91kDa 0.476014
SRGN serglycin 0.452208
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) 0.442042
RUNX1 runt-related transcription factor 1 0.424014
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.405305
FLT3 fms-related tyrosine kinase 3 0.404184
JAK2 Janus kinase 2 0.392257
CARD9 caspase recruitment domain family, member 9 0.390769
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 0.357077
SLC45A2 solute carrier family 45, member 2 0.354499
LYN LYN proto-oncogene, Src family tyrosine kinase 0.349717
LTF lactotransferrin 0.346777
KITLG KIT ligand 0.340173
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 0.321545
NAMPT nicotinamide phosphoribosyltransferase 0.313552
THPO thrombopoietin 0.310652
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.30631
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 0.291539
SOCS3 suppressor of cytokine signaling 3 0.290821
NR0B2 nuclear receptor subfamily 0, group B, member 2 0.289386
SUZ12 SUZ12 polycomb repressive complex 2 subunit 0.287235
TAZ tafazzin 0.280439
HCK HCK proto-oncogene, Src family tyrosine kinase 0.279367
CXCR4 chemokine (C-X-C motif) receptor 4 0.273308
MPL MPL proto-oncogene, thrombopoietin receptor 0.266203
MAP2K3 mitogen-activated protein kinase kinase 3 0.251366
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 0.239799
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 0.236312
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0.224196
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 0.220081
GSK3B glycogen synthase kinase 3 beta 0.212945
IFNGR1 interferon gamma receptor 1 0.212271
MEIS1 Meis homeobox 1 0.209248
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.206913
BANF1 barrier to autointegration factor 1 0.206248
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta 0.192344
PARK2 parkin RBR E3 ubiquitin protein ligase 0.191719
CSF1 colony stimulating factor 1 (macrophage) 0.18621
BIRC5 baculoviral IAP repeat containing 5 0.18591
EP300 E1A binding protein p300 0.185313
STAT5B signal transducer and activator of transcription 5B 0.183541
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.182375
SLPI secretory leukocyte peptidase inhibitor 0.17952
ZBTB16 zinc finger and BTB domain containing 16 0.17952
SIRT1 sirtuin 1 0.173571
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.159838
PBX1 pre-B-cell leukemia homeobox 1 0.158951