abnormal leukocyte count Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Number of leukocytes per volume of blood beyond normal limits. (Human Phenotype Ontology, HP_0011893)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011893
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Genes

116 genes associated with the abnormal leukocyte count phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AK2 adenylate kinase 2
ARHGAP31 Rho GTPase activating protein 31
ATM ATM serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CAPN3 calpain 3, (p94)
CASP10 caspase 10, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CD19 CD19 molecule
CD247 CD247 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD81 CD81 molecule
CD8A CD8a molecule
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
COL1A1 collagen, type I, alpha 1
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
ELANE elastase, neutrophil expressed
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC4 excision repair cross-complementation group 4
ERCC6L2 excision repair cross-complementation group 6-like 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FAT4 FAT atypical cadherin 4
FERMT3 fermitin family member 3
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GFI1 growth factor independent 1 transcription repressor
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
IVD isovaleryl-CoA dehydrogenase
JAK2 Janus kinase 2
LIG4 ligase IV, DNA, ATP-dependent
LMNB2 lamin B2
LPIN2 lipin 2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
MAGT1 magnesium transporter 1
MEFV Mediterranean fever
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
NBN nibrin
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NLRP3 NLR family, pyrin domain containing 3
NOTCH1 notch 1
PALB2 partner and localizer of BRCA2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGM3 phosphoglucomutase 3
PNP purine nucleoside phosphorylase
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PTPRC protein tyrosine phosphatase, receptor type, C
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL35A ribosomal protein L35a
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCARB2 scavenger receptor class B, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK4 serine/threonine kinase 4
TBXAS1 thromboxane A synthase 1 (platelet)
TCN2 transcobalamin II
TERC telomerase RNA component
TGFB1 transforming growth factor, beta 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM173 transmembrane protein 173
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TREX1 three prime repair exonuclease 1
UNC119 unc-119 homolog (C. elegans)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
ZBTB24 zinc finger and BTB domain containing 24