abnormal granulocyte number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description an anomaly in the number of leukocytes that have abundant granules in the cytoplasm, including basophils, neutrophils, and eosinophils (Mammalian Phenotype Ontology, MP_0020201)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0020201
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Genes

311 gene mutations causing the abnormal granulocyte number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACVR2A activin A receptor, type IIA
ADGRE5 adhesion G protein-coupled receptor E5
AGR2 anterior gradient 2
ALOX15 arachidonate 15-lipoxygenase
AMPD3 adenosine monophosphate deaminase 3
ANK1 ankyrin 1, erythrocytic
ARHGAP15 Rho GTPase activating protein 15
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5
ARID4A AT rich interactive domain 4A (RBP1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1
ATP7B ATPase, Cu++ transporting, beta polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BAG3 BCL2-associated athanogene 3
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCL6 B-cell CLL/lymphoma 6
BCL6B B-cell CLL/lymphoma 6, member B
BCR breakpoint cluster region
BHLHE41 basic helix-loop-helix family, member e41
BTK Bruton agammaglobulinemia tyrosine kinase
C3 complement component 3
C3AR1 complement component 3a receptor 1
C4A complement component 4A (Rodgers blood group)
CAMP cathelicidin antimicrobial peptide
CCL11 chemokine (C-C motif) ligand 11
CCL13 chemokine (C-C motif) ligand 13
CCL3L3 chemokine (C-C motif) ligand 3-like 3
CCR1 chemokine (C-C motif) receptor 1
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CCR4 chemokine (C-C motif) receptor 4
CD101 CD101 molecule
CD19 CD19 molecule
CD300A CD300a molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CDH5 cadherin 5, type 2 (vascular endothelium)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CERK ceramide kinase
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CISH cytokine inducible SH2-containing protein
CLCA1 chloride channel accessory 1
CLEC4E C-type lectin domain family 4, member E
CMKLR1 chemerin chemokine-like receptor 1
CNN2 calponin 2
CPA3 carboxypeptidase A3 (mast cell)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CREBBP CREB binding protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSE cathepsin E
CXCL6 chemokine (C-X-C motif) ligand 6
CXCR2 chemokine (C-X-C motif) receptor 2
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DCC DCC netrin 1 receptor
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DIAPH1 diaphanous-related formin 1
DIDO1 death inducer-obliterator 1
DSG3 desmoglein 3
DUSP1 dual specificity phosphatase 1
E2F4 E2F transcription factor 4, p107/p130-binding
ELMOD1 ELMO/CED-12 domain containing 1
EP300 E1A binding protein p300
ESR2 estrogen receptor 2 (ER beta)
F3 coagulation factor III (thromboplastin, tissue factor)
FAM104A family with sequence similarity 104, member A
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASTK Fas-activated serine/threonine kinase
FBN1 fibrillin 1
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FES FES proto-oncogene, tyrosine kinase
FHIT fragile histidine triad
FLT3 fms-related tyrosine kinase 3
FLT3LG fms-related tyrosine kinase 3 ligand
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
FZD9 frizzled class receptor 9
G6PC3 glucose 6 phosphatase, catalytic, 3
GAB2 GRB2-associated binding protein 2
GADD45A growth arrest and DNA-damage-inducible, alpha
GALC galactosylceramidase
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2
GFI1 growth factor independent 1 transcription repressor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
GNMT glycine N-methyltransferase
GPC2 glypican 2
GPRC5C G protein-coupled receptor, class C, group 5, member C
GSE1 Gse1 coiled-coil protein
GSN gelsolin
GSX1 GS homeobox 1
HAX1 HCLS1 associated protein X-1
HCK HCK proto-oncogene, Src family tyrosine kinase
HDC histidine decarboxylase
HMGN5 high mobility group nucleosome binding domain 5
HPRT1 hypoxanthine phosphoribosyltransferase 1
ICAM1 intercellular adhesion molecule 1
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IER3 immediate early response 3
IFITM1 interferon induced transmembrane protein 1
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL13 interleukin 13
IL13RA1 interleukin 13 receptor, alpha 1
IL17A interleukin 17A
IL17RA interleukin 17 receptor A
IL17RB interleukin 17 receptor B
IL1R1 interleukin 1 receptor, type I
IL1RL1 interleukin 1 receptor-like 1
IL1RL2 interleukin 1 receptor-like 2
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL25 interleukin 25
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL33 interleukin 33
IL36RN interleukin 36 receptor antagonist
IL4 interleukin 4
IL4R interleukin 4 receptor
IL5 interleukin 5
IL5RA interleukin 5 receptor, alpha
IL6ST interleukin 6 signal transducer
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRF8 interferon regulatory factor 8
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB7 integrin, beta 7
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JAM3 junctional adhesion molecule 3
KDM5A lysine (K)-specific demethylase 5A
KERA keratocan
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
LAIR1 leukocyte-associated immunoglobulin-like receptor 1
LAT linker for activation of T cells
LCN2 lipocalin 2
LDHA lactate dehydrogenase A
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
LIF leukemia inhibitory factor
LMO2 LIM domain only 2 (rhombotin-like 1)
LTB4R leukotriene B4 receptor
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
LUM lumican
LYN LYN proto-oncogene, Src family tyrosine kinase
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MFAP5 microfibrillar associated protein 5
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MINA MYC induced nuclear antigen
MIR223 microRNA 223
MITF microphthalmia-associated transcription factor
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
MSI2 musashi RNA-binding protein 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MXD1 MAX dimerization protein 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
MYL12A myosin, light chain 12A, regulatory, non-sarcomeric
MYSM1 Myb-like, SWIRM and MPN domains 1
NAMPT nicotinamide phosphoribosyltransferase
NCKAP1L NCK-associated protein 1-like
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOS2 nitric oxide synthase 2, inducible
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OED Oregon eye disease
OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PILRA paired immunoglobin-like type 2 receptor alpha
PITX3 paired-like homeodomain 3
PLA2G10 phospholipase A2, group X
PLAC8 placenta-specific 8
PLCD1 phospholipase C, delta 1
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1
PLSCR1 phospholipid scramblase 1
PML promyelocytic leukemia
POMT1 protein-O-mannosyltransferase 1
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRSS50 protease, serine, 50
PTCH2 patched 2
PTGDR2 prostaglandin D2 receptor 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTRH2 peptidyl-tRNA hydrolase 2
RAB27A RAB27A, member RAS oncogene family
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBP1 retinol binding protein 1, cellular
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RIC1 RAB6A GEF complex partner 1
RUNX2 runt-related transcription factor 2
SAMD9L sterile alpha motif domain containing 9-like
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETMAR SET domain and mariner transposase fusion gene
SFRP1 secreted frizzled-related protein 1
SFTPD surfactant protein D
SGPL1 sphingosine-1-phosphate lyase 1
SH2B3 SH2B adaptor protein 3
SHARPIN SHANK-associated RH domain interactor
SIGLEC8 sialic acid binding Ig-like lectin 8
SIN3B SIN3 transcription regulator family member B
SIPA1 signal-induced proliferation-associated 1
SIRT7 sirtuin 7
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMAD3 SMAD family member 3
SMAP1 small ArfGAP 1
SOCS1 suppressor of cytokine signaling 1
SOCS3 suppressor of cytokine signaling 3
SOS1 son of sevenless homolog 1 (Drosophila)
SPI1 Spi-1 proto-oncogene
SPINK5 serine peptidase inhibitor, Kazal type 5
SPNS2 spinster homolog 2 (Drosophila)
SPRED1 sprouty-related, EVH1 domain containing 1
SPTA1 spectrin, alpha, erythrocytic 1
SRGN serglycin
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
STAT5A signal transducer and activator of transcription 5A
STX11 syntaxin 11
SYK spleen tyrosine kinase
T T, brachyury homolog (mouse)
TBK1 TANK-binding kinase 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TET1 tet methylcytosine dioxygenase 1
TET2 tet methylcytosine dioxygenase 2
THBS1 thrombospondin 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TLR5 toll-like receptor 5
TLX1 T-cell leukemia homeobox 1
TMC6 transmembrane channel-like 6
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNIP1 TNFAIP3 interacting protein 1
TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast)
TP53 tumor protein p53
TRAF2 TNF receptor-associated factor 2
TREM1 triggering receptor expressed on myeloid cells 1
TRIB1 tribbles pseudokinase 1
TSTA3 tissue specific transplantation antigen P35B
TWSG1 twisted gastrulation BMP signaling modulator 1
UNC13D unc-13 homolog D (C. elegans)
USP21 ubiquitin specific peptidase 21
USP25 ubiquitin specific peptidase 25
VTCN1 V-set domain containing T cell activation inhibitor 1
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
WDR37 WD repeat domain 37
ZBTB46 zinc finger and BTB domain containing 46
ZDHHC13 zinc finger, DHHC-type containing 13
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1