Neutropenia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0877153
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC10 ATP-binding cassette, sub-family C (CFTR/MRP), member 10
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACTB actin, beta
ADA2 adenosine deaminase 2
ADK adenosine kinase
ADM adrenomedullin
ADRBK2 adrenergic, beta, receptor kinase 2
AGA aspartylglucosaminidase
AGRP agouti related neuropeptide
AICDA activation-induced cytidine deaminase
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
AOC1 amine oxidase, copper containing 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
ARR3 arrestin 3, retinal (X-arrestin)
ARTN artemin
ASF1A anti-silencing function 1A histone chaperone
ASXL1 additional sex combs like transcriptional regulator 1
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GAT1 beta-1,3-glucuronyltransferase 1
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BCOR BCL6 corepressor
BLNK B-cell linker
BOC BOC cell adhesion associated, oncogene regulated
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BTBD8 BTB (POZ) domain containing 8
BTK Bruton agammaglobulinemia tyrosine kinase
C3 complement component 3
C5 complement component 5
C5AR1 complement component 5a receptor 1
CAMP cathelicidin antimicrobial peptide
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCL2 chemokine (C-C motif) ligand 2
CD177 CD177 molecule
CD19 CD19 molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CDA cytidine deaminase
CDAN1 codanin 1
CDC42 cell division cycle 42
CDK4 cyclin-dependent kinase 4
CEL carboxyl ester lipase
CES1 carboxylesterase 1
CFI complement factor I
CGA glycoprotein hormones, alpha polypeptide
CHD2 chromodomain helicase DNA binding protein 2
CHPT1 choline phosphotransferase 1
CIITA class II, major histocompatibility complex, transactivator
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
COG4 component of oligomeric golgi complex 4
CPB1 carboxypeptidase B1 (tissue)
CREBZF CREB/ATF bZIP transcription factor
CRP C-reactive protein, pentraxin-related
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXADR coxsackie virus and adenovirus receptor
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL2 chemokine (C-X-C motif) ligand 2
CXCR4 chemokine (C-X-C motif) receptor 4
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DAPK1 death-associated protein kinase 1
DCTD dCMP deaminase
DDIT3 DNA-damage-inducible transcript 3
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
DHDDS dehydrodolichyl diphosphate synthase
DHFR dihydrofolate reductase
DIRAS1 DIRAS family, GTP-binding RAS-like 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DNM2 dynamin 2
DPYD dihydropyrimidine dehydrogenase
EFL1 elongation factor like GTPase 1
EGFR epidermal growth factor receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF6 eukaryotic translation initiation factor 6
ELANE elastase, neutrophil expressed
ELAVL1 ELAV like RNA binding protein 1
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ESR1 estrogen receptor 1
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FH fumarate hydratase
FHL3 four and a half LIM domains 3
FIP1L1 factor interacting with PAPOLA and CPSF1
FLT3 fms-related tyrosine kinase 3
FLT3LG fms-related tyrosine kinase 3 ligand
FMO3 flavin containing monooxygenase 3
FOXC1 forkhead box C1
FUS FUS RNA binding protein
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GEM GTP binding protein overexpressed in skeletal muscle
GFI1 growth factor independent 1 transcription repressor
GINS1 GINS complex subunit 1 (Psf1 homolog)
GPSM3 G-protein signaling modulator 3
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSS glutathione synthetase
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HAX1 HCLS1 associated protein X-1
HBB hemoglobin, beta
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMMR hyaluronan-mediated motility receptor (RHAMM)
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
HOXD13 homeobox D13
HTRA2 HtrA serine peptidase 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ICAM1 intercellular adhesion molecule 1
IDUA iduronidase, alpha-L-
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA2 interferon, alpha 2
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL11 interleukin 11
IL1B interleukin 1, beta
IL6 interleukin 6
IL6R interleukin 6 receptor
IL7R interleukin 7 receptor
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2
IRAK4 interleukin-1 receptor-associated kinase 4
IRF2BP2 interferon regulatory factor 2 binding protein 2
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAGN1 jagunal homolog 1 (Drosophila)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JPT1 Jupiter microtubule associated homolog 1
KAT6A K(lysine) acetyltransferase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT20 keratin 20, type I
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LEF1 lymphoid enhancer-binding factor 1
LMBRD1 LMBR1 domain containing 1
LOC100996717 uncharacterized LOC100996717
LOC100996763 notch homolog 2 N-terminal-like protein
LPIN2 lipin 2
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MBL2 mannose-binding lectin (protein C) 2, soluble
MCL1 myeloid cell leukemia 1
MCPH1 microcephalin 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MERTK MER proto-oncogene, tyrosine kinase
MET MET proto-oncogene, receptor tyrosine kinase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MMUT methylmalonyl-CoA mutase
MPLKIP M-phase specific PLK1 interacting protein
MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH6 mutS homolog 6
MSN moesin
MT1E metallothionein 1E
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTX1 metaxin 1
N4BP2L2 NEDD4 binding protein 2-like 2
NABP1 nucleic acid binding protein 1
NCAM1 neural cell adhesion molecule 1
NCOA5 nuclear receptor coactivator 5
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NOTCH2NL notch 2 N-terminal like
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR1I3 nuclear receptor subfamily 1, group I, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15
NUMA1 nuclear mitotic apparatus protein 1
NUP98 nucleoporin 98kDa
PAEP progestagen-associated endometrial protein
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PARP1 poly (ADP-ribose) polymerase 1
PARP9 poly (ADP-ribose) polymerase family, member 9
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDCD1 programmed cell death 1
PDE4B phosphodiesterase 4B, cAMP-specific
PGM3 phosphoglucomutase 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLK1 polo-like kinase 1
PML promyelocytic leukemia
PPP6R2 protein phosphatase 6, regulatory subunit 2
PRDX1 peroxiredoxin 1
PRF1 perforin 1 (pore forming protein)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTAFR platelet-activating factor receptor
PTK2 protein tyrosine kinase 2
PXN paxillin
RAB27A RAB27A, member RAS oncogene family
RARA retinoic acid receptor, alpha
RBSN rabenosyn, RAB effector
RECQL4 RecQ protein-like 4
REV1 REV1, polymerase (DNA directed)
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RNF113A ring finger protein 113A
RPL11 ribosomal protein L11
RPL18 ribosomal protein L18
RPL26 ribosomal protein L26
RPS14 ribosomal protein S14
RPS15 ribosomal protein S15
RPS17 ribosomal protein S17
RPS7 ribosomal protein S7
RRM1 ribonucleotide reductase M1
SAMD9L sterile alpha motif domain containing 9-like
SBDS Shwachman-Bodian-Diamond syndrome
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEPT3 septin 3
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHBG sex hormone-binding globulin
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1
SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC45A2 solute carrier family 45, member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOCS3 suppressor of cytokine signaling 3
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SRP54 signal recognition particle 54kDa
STAT2 signal transducer and activator of transcription 2, 113kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5B signal transducer and activator of transcription 5B
STK4 serine/threonine kinase 4
STX11 syntaxin 11
TAZ tafazzin
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TDP1 tyrosyl-DNA phosphodiesterase 1
TDP2 tyrosyl-DNA phosphodiesterase 2
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFF1 trefoil factor 1
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP1 topoisomerase (DNA) I
TP53 tumor protein p53
TP63 tumor protein p63
TPMT thiopurine S-methyltransferase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM13 tripartite motif containing 13
TYMS thymidylate synthetase
UBE2A ubiquitin-conjugating enzyme E2A
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
UMPS uridine monophosphate synthetase
USB1 U6 snRNA biogenesis 1
UTS2R urotensin 2 receptor
VIM vimentin
VIP vasoactive intestinal peptide
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WDHD1 WD repeat and HMG-box DNA binding protein 1
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
XPC xeroderma pigmentosum, complementation group C
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YME1L1 YME1-like 1 ATPase
ZBTB16 zinc finger and BTB domain containing 16
ZIC3 Zic family member 3
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2