Congenital Neutropenia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A form of neutropenia with congenital onset. (Human Phenotype Ontology, HP_0005549)
External Link https://www.disgenet.org/browser/0/1/0/C0340970
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Genes

66 genes associated with the disease Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AK2 adenylate kinase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARHGDIB Rho GDP dissociation inhibitor (GDI) beta
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BCL2 B-cell CLL/lymphoma 2
CAMP cathelicidin antimicrobial peptide
CD33 CD33 molecule
CD34 CD34 molecule
CD40LG CD40 ligand
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDKN2A cyclin-dependent kinase inhibitor 2A
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHD2 chromodomain helicase DNA binding protein 2
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
ELANE elastase, neutrophil expressed
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA2 GATA binding protein 2
GFI1 growth factor independent 1 transcription repressor
HAX1 HCLS1 associated protein X-1
HCLS1 hematopoietic cell-specific Lyn substrate 1
HOXB8 homeobox B8
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL3 interleukin 3
JAGN1 jagunal homolog 1 (Drosophila)
KAT6A K(lysine) acetyltransferase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LCN2 lipocalin 2
LEF1 lymphoid enhancer-binding factor 1
LTF lactotransferrin
NAMPT nicotinamide phosphoribosyltransferase
NR0B2 nuclear receptor subfamily 0, group B, member 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RPP14 ribonuclease P/MRP 14kDa subunit
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
S100A9 S100 calcium binding protein A9
SCN1A sodium channel, voltage gated, type I alpha subunit
SF3B6 splicing factor 3b, subunit 6, 14kDa
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLPI secretory leukocyte peptidase inhibitor
SRI sorcin
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
SUB1 SUB1 homolog (S. cerevisiae)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TP53 tumor protein p53
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WNT3A wingless-type MMTV integration site family, member 3A