leukopenia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description decrease in no. of leukocytes (Experimental Factor Ontology, EFO_0004233)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001882
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Genes

75 genes associated with the leukopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADA adenosine deaminase
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
CCBE1 collagen and calcium binding EGF domains 1
CD19 CD19 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD81 CD81 molecule
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
DKC1 dyskeratosis congenita 1, dyskerin
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
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
FAT4 FAT atypical cadherin 4
G6PC3 glucose 6 phosphatase, catalytic, 3
GBA glucosidase, beta, acid
ICOS inducible T-cell co-stimulator
IVD isovaleryl-CoA dehydrogenase
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUT methylmalonyl CoA mutase
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NOTCH1 notch 1
PALB2 partner and localizer of BRCA2
PGM3 phosphoglucomutase 3
PNP purine nucleoside phosphorylase
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
RAD51C RAD51 paralog C
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL35A ribosomal protein L35a
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
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
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
ZBTB24 zinc finger and BTB domain containing 24