thrombocytopenia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A blood platelet disease characterized by low a platelet count in the blood. (Human Disease Ontology, DOID_1588)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001873
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Genes

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

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACAD9 acyl-CoA dehydrogenase family, member 9
ACP5 acid phosphatase 5, tartrate resistant
ACTN1 actinin, alpha 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGK acylglycerol kinase
ANKRD11 ankyrin repeat domain 11
ANKRD26 ankyrin repeat domain 26
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATRX alpha thalassemia/mental retardation syndrome X-linked
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
CA2 carbonic anhydrase II
CASP10 caspase 10, apoptosis-related cysteine peptidase
CD19 CD19 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD40LG CD40 ligand
CD81 CD81 molecule
COL4A5 collagen, type IV, alpha 5
COMT catechol-O-methyltransferase
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTC1 CTS telomere maintenance complex component 1
CYCS cytochrome c, somatic
DCLRE1C DNA cross-link repair 1C
DGKE diacylglycerol kinase, epsilon 64kDa
DGUOK deoxyguanosine kinase
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DOCK6 dedicator of cytokinesis 6
ELANE elastase, neutrophil expressed
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 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
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FLNA filamin A, alpha
FOXP3 forkhead box P3
G6PC3 glucose 6 phosphatase, catalytic, 3
GALC galactosylceramidase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GFI1B growth factor independent 1B transcription repressor
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP9 glycoprotein IX (platelet)
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HOXA11 homeobox A11
HPS5 Hermansky-Pudlak syndrome 5
ICOS inducible T-cell co-stimulator
IFIH1 interferon induced with helicase C domain 1
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITK IL2-inducible T-cell kinase
IVD isovaleryl-CoA dehydrogenase
JAK2 Janus kinase 2
KMT2D lysine (K)-specific methyltransferase 2D
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LMBRD1 LMBR1 domain containing 1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
MASTL microtubule associated serine/threonine kinase-like
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NBN nibrin
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PHGDH phosphoglycerate dehydrogenase
PLAU plasminogen activator, urokinase
PNP purine nucleoside phosphorylase
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PSAP prosaposin
PTPN11 protein tyrosine phosphatase, non-receptor type 11
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
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RPS19 ribosomal protein S19
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SALL4 spalt-like transcription factor 4
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SH2D1A SH2 domain containing 1A
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
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
SNX10 sorting nexin 10
STIM1 stromal interaction molecule 1
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STX11 syntaxin 11
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCN2 transcobalamin II
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM165 transmembrane protein 165
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TREX1 three prime repair exonuclease 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53