abnormal platelet cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation (Mammalian Phenotype Ontology, MP_0011898)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011898
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Genes

173 gene mutations causing the abnormal platelet cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACSL4 acyl-CoA synthetase long-chain family member 4
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADD1 adducin 1 (alpha)
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIF1 allograft inflammatory factor 1
ANK1 ankyrin 1, erythrocytic
ANXA7 annexin A7
APOE apolipoprotein E
ARID4A AT rich interactive domain 4A (RBP1-like)
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARRB2 arrestin, beta 2
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BAG1 BCL2-associated athanogene
BAK1 BCL2-antagonist/killer 1
BBS5 Bardet-Biedl syndrome 5
BCL2L1 BCL2-like 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C6ORF25 chromosome 6 open reading frame 25
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CD47 CD47 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLEC10A C-type lectin domain family 10, member A
CLEC1B C-type lectin domain family 1, member B
CLIC1 chloride intracellular channel 1
CLK1 CDC-like kinase 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CRLF3 cytokine receptor-like factor 3
CTSG cathepsin G
DCC DCC netrin 1 receptor
DKC1 dyskeratosis congenita 1, dyskerin
DTNBP1 dystrobrevin binding protein 1
DZANK1 double zinc ribbon and ankyrin repeat domains 1
EGR1 early growth response 1
ELMOD1 ELMO/CED-12 domain containing 1
ENC1 ectodermal-neural cortex 1 (with BTB domain)
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EP300 E1A binding protein p300
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
FAM175B family with sequence similarity 175, member B
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FBXO11 F-box protein 11
FBXO7 F-box protein 7
FGF2 fibroblast growth factor 2 (basic)
FLT3 fms-related tyrosine kinase 3
FOXP3 forkhead box P3
FYB FYN binding protein
GALC galactosylceramidase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GHRHR growth hormone releasing hormone receptor
GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP9 glycoprotein IX (platelet)
HBA1 hemoglobin, alpha 1
HBP1 HMG-box transcription factor 1
HBZ hemoglobin, zeta
HPRT1 hypoxanthine phosphoribosyltransferase 1
HYAL2 hyaluronoglucosaminidase 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IL6ST interleukin 6 signal transducer
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KMT2E lysine (K)-specific methyltransferase 2E
KPNA1 karyopherin alpha 1 (importin alpha 5)
LAIR1 leukocyte-associated immunoglobulin-like receptor 1
LAMC3 laminin, gamma 3
LCN2 lipocalin 2
LIF leukemia inhibitory factor
LMO2 LIM domain only 2 (rhombotin-like 1)
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
LYN LYN proto-oncogene, Src family tyrosine kinase
MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MEIS1 Meis homeobox 1
MFAP2 microfibrillar-associated protein 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MPL MPL proto-oncogene, thrombopoietin receptor
MTUS1 microtubule associated tumor suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYH9 myosin, heavy chain 9, non-muscle
MYSM1 Myb-like, SWIRM and MPN domains 1
NBEAL2 neurobeachin-like 2
NCOA3 nuclear receptor coactivator 3
NDFIP2 Nedd4 family interacting protein 2
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NGFR nerve growth factor receptor
NLRP3 NLR family, pyrin domain containing 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO2 NAD(P)H dehydrogenase, quinone 2
OSMR oncostatin M receptor
OXR1 oxidation resistance 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PF4 platelet factor 4
PGM3 phosphoglucomutase 3
PHTF2 putative homeodomain transcription factor 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PITX3 paired-like homeodomain 3
PLEK pleckstrin
PRF1 perforin 1 (pore forming protein)
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROCR protein C receptor, endothelial
PROS1 protein S (alpha)
PSPH phosphoserine phosphatase
PTTG1 pituitary tumor-transforming 1
RAB27A RAB27A, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RAD50 RAD50 homolog (S. cerevisiae)
RASA3 RAS p21 protein activator 3
RC3H1 ring finger and CCCH-type domains 1
RHOF ras homolog family member F (in filopodia)
RPL27A ribosomal protein L27a
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTBDN retbindin
RUNX1 runt-related transcription factor 1
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SH2B3 SH2B adaptor protein 3
SIRPA signal-regulatory protein alpha
SIRT2 sirtuin 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC38A10 solute carrier family 38, member 10
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLX4 SLX4 structure-specific endonuclease subunit
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SOCS1 suppressor of cytokine signaling 1
SPSB2 splA/ryanodine receptor domain and SOCS box containing 2
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STX11 syntaxin 11
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TET2 tet methylcytosine dioxygenase 2
THBS2 thrombospondin 2
THPO thrombopoietin
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TPMT thiopurine S-methyltransferase
TREML1 triggering receptor expressed on myeloid cells-like 1
TSPAN33 tetraspanin 33
TTC7A tetratricopeptide repeat domain 7A
TUBB1 tubulin, beta 1 class VI
TWF1 twinfilin actin binding protein 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UNC13D unc-13 homolog D (C. elegans)
UNC93B1 unc-93 homolog B1 (C. elegans)
USP18 ubiquitin specific peptidase 18
USP38 ubiquitin specific peptidase 38
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
WTAP Wilms tumor 1 associated protein
XBP1 X-box binding protein 1
ZC3H12A zinc finger CCCH-type containing 12A
ZFP36 ZFP36 ring finger protein
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1