abnormal megakaryocyte progenitor cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the progenitor cells of the thrombocytic (platelet) line of cells (Mammalian Phenotype Ontology, MP_0002413)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002413
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Genes

252 gene mutations causing the abnormal megakaryocyte progenitor cell morphology 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
AHCYL1 adenosylhomocysteinase-like 1
AIF1 allograft inflammatory factor 1
AMPD1 adenosine monophosphate deaminase 1
ANK1 ankyrin 1, erythrocytic
ANO6 anoctamin 6
ANXA7 annexin A7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
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)
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C6ORF25 chromosome 6 open reading frame 25
CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CD47 CD47 molecule
CDK6 cyclin-dependent kinase 6
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD2 chromodomain helicase DNA binding protein 2
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)
CREBBP CREB binding protein
CRLF3 cytokine receptor-like factor 3
CTSG cathepsin G
DCC DCC netrin 1 receptor
DIDO1 death inducer-obliterator 1
DKC1 dyskeratosis congenita 1, dyskerin
DOCK7 dedicator of cytokinesis 7
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
ESR2 estrogen receptor 2 (ER beta)
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
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FES FES proto-oncogene, tyrosine kinase
FGF2 fibroblast growth factor 2 (basic)
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT3 fms-related tyrosine kinase 3
FOXP3 forkhead box P3
FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase)
FYB FYN binding protein
GALC galactosylceramidase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GFI1B growth factor independent 1B transcription repressor
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)
GPR107 G protein-coupled receptor 107
HBA1 hemoglobin, alpha 1
HBP1 HMG-box transcription factor 1
HBZ hemoglobin, zeta
HPRT1 hypoxanthine phosphoribosyltransferase 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HYAL2 hyaluronoglucosaminidase 2
ICAM2 intercellular adhesion molecule 2
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RG interleukin 2 receptor, gamma
IL6ST interleukin 6 signal transducer
INCA1 inhibitor of CDK, cyclin A1 interacting protein 1
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRF8 interferon regulatory factor 8
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
JARID2 jumonji, AT rich interactive domain 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)
KXD1 KxDL motif containing 1
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
LYST lysosomal trafficking regulator
MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MEIS1 Meis homeobox 1
METTL24 methyltransferase like 24
MFAP2 microfibrillar-associated protein 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP9 matrix metallopeptidase 9
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
NCOR2 nuclear receptor corepressor 2
NDFIP2 Nedd4 family interacting protein 2
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NGFR nerve growth factor receptor
NHP2 NHP2 ribonucleoprotein
NLRP3 NLR family, pyrin domain containing 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
ORAI1 ORAI calcium release-activated calcium modulator 1
OSMR oncostatin M receptor
OXR1 oxidation resistance 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM1 PDZ and LIM domain 1
PEX3 peroxisomal biogenesis factor 3
PF4 platelet factor 4
PGM3 phosphoglucomutase 3
PHF20 PHD finger protein 20
PHTF2 putative homeodomain transcription factor 2
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX3 paired-like homeodomain 3
PLD1 phospholipase D1, phosphatidylcholine-specific
PLEK pleckstrin
PRF1 perforin 1 (pore forming protein)
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROCR protein C receptor, endothelial
PROS1 protein S (alpha)
PSPH phosphoserine phosphatase
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTTG1 pituitary tumor-transforming 1
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RAD50 RAD50 homolog (S. cerevisiae)
RANBP10 RAN binding protein 10
RASA3 RAS p21 protein activator 3
RB1 retinoblastoma 1
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
S1PR4 sphingosine-1-phosphate receptor 4
SAMD9L sterile alpha motif domain containing 9-like
SENP1 SUMO1/sentrin specific peptidase 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
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC35D3 solute carrier family 35, member D3
SLC38A10 solute carrier family 38, member 10
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SLX4 SLX4 structure-specific endonuclease subunit
SMAP1 small ArfGAP 1
SNAI2 snail family zinc finger 2
SNAP47 synaptosomal-associated protein, 47kDa
SOCS1 suppressor of cytokine signaling 1
SOS1 son of sevenless homolog 1 (Drosophila)
SPRED2 sprouty-related, EVH1 domain containing 2
SPSB2 splA/ryanodine receptor domain and SOCS box containing 2
SQSTM1 sequestosome 1
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
SVIL supervillin
SYT1 synaptotagmin I
SYTL1 synaptotagmin-like 1
T T, brachyury homolog (mouse)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TET2 tet methylcytosine dioxygenase 2
THBS2 thrombospondin 2
THPO thrombopoietin
TMEM189 transmembrane protein 189
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
VASP vasodilator-stimulated phosphoprotein
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WAS Wiskott-Aldrich syndrome
WDR1 WD repeat domain 1
WDR37 WD repeat domain 37
WDTC1 WD and tetratricopeptide repeats 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
ZNF182 zinc finger protein 182
ZNF385A zinc finger protein 385A