abnormality of granulocytes Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of granulocytes. (Human Phenotype Ontology, HP_0001911)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001911
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Genes

153 genes associated with the abnormality of granulocytes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AGA aspartylglucosaminidase
AK2 adenylate kinase 2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAG3 BCL2-associated athanogene 3
BLNK B-cell linker
BTK Bruton agammaglobulinemia tyrosine kinase
CAPN3 calpain 3, (p94)
CASP10 caspase 10, apoptosis-related cysteine peptidase
CD247 CD247 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CHD7 chromodomain helicase DNA binding protein 7
CIITA class II, major histocompatibility complex, transactivator
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DES desmin
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
DOLK dolichol kinase
DSG2 desmoglein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELANE elastase, neutrophil expressed
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
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBXL4 F-box and leucine-rich repeat protein 4
FHL2 four and a half LIM domains 2
FKTN fukutin
FMO3 flavin containing monooxygenase 3
FTCD formimidoyltransferase cyclodeaminase
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATAD1 GATA zinc finger domain containing 1
GFI1 growth factor independent 1 transcription repressor
GPI glucose-6-phosphate isomerase
GSS glutathione synthetase
HAX1 HCLS1 associated protein X-1
HLA-B major histocompatibility complex, class I, B
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
IRAK4 interleukin-1 receptor-associated kinase 4
JAGN1 jagunal homolog 1 (Drosophila)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LDB3 LIM domain binding 3
LIG4 ligase IV, DNA, ATP-dependent
LMBRD1 LMBR1 domain containing 1
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MUT methylmalonyl CoA mutase
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYPN myopalladin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NEXN nexilin (F actin binding protein)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGM3 phosphoglucomutase 3
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLN phospholamban
PNP purine nucleoside phosphorylase
PRDM16 PR domain containing 16
PSEN1 presenilin 1
PSEN2 presenilin 2
RAB27A RAB27A, member RAS oncogene family
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
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPS19 ribosomal protein S19
RTEL1 regulator of telomere elongation helicase 1
SBDS Shwachman-Bodian-Diamond syndrome
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
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
STX11 syntaxin 11
TAZ tafazzin
TCAP titin-cap
TCF3 transcription factor 3
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TTN titin
TXNRD2 thioredoxin reductase 2
UNC13D unc-13 homolog D (C. elegans)
USB1 U6 snRNA biogenesis 1
VCL vinculin
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
WRAP53 WD repeat containing, antisense to TP53
ZBTB24 zinc finger and BTB domain containing 24