abnormal platelet activation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug (Mammalian Phenotype Ontology, MP_0006298)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006298
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Genes

72 gene mutations causing the abnormal platelet activation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADORA2A adenosine A2a receptor
ALOX12 arachidonate 12-lipoxygenase
ANXA7 annexin A7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
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
C6ORF25 chromosome 6 open reading frame 25
CAPN1 calpain 1, (mu/I) large subunit
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CLEC1B C-type lectin domain family 1, member B
CLIC1 chloride intracellular channel 1
DTNBP1 dystrobrevin binding protein 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
F2 coagulation factor II (thrombin)
FADS2 fatty acid desaturase 2
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGG fibrinogen gamma chain
GAS6 growth arrest-specific 6
GDF15 growth differentiation factor 15
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide
GPX3 glutathione peroxidase 3
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HPS3 Hermansky-Pudlak syndrome 3
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LAT linker for activation of T cells
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
MERTK MER proto-oncogene, tyrosine kinase
NBEAL2 neurobeachin-like 2
NOS2 nitric oxide synthase 2, inducible
ORAI1 ORAI calcium release-activated calcium modulator 1
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PDLIM1 PDZ and LIM domain 1
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLD1 phospholipase D1, phosphatidylcholine-specific
PLEK pleckstrin
PRKCQ protein kinase C, theta
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
RANBP10 RAN binding protein 10
RAP1B RAP1B, member of RAS oncogene family
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
SEPT5 septin 5
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
STIM1 stromal interaction molecule 1
SVIL supervillin
TBXA2R thromboxane A2 receptor
TBXAS1 thromboxane A synthase 1 (platelet)
TEC tec protein tyrosine kinase
TREML1 triggering receptor expressed on myeloid cells-like 1
VAMP8 vesicle-associated membrane protein 8
VASP vasodilator-stimulated phosphoprotein
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VTN vitronectin
VWF von Willebrand factor