abnormal platelet physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005464
Similar Terms
Downloads & Tools

Genes

95 gene mutations causing the abnormal platelet physiology 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
ACHE acetylcholinesterase (Yt blood group)
ADAM17 ADAM metallopeptidase domain 17
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADORA2A adenosine A2a receptor
ALOX12 arachidonate 12-lipoxygenase
ANO6 anoctamin 6
ANXA7 annexin A7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
BAK1 BCL2-antagonist/killer 1
BCL2L1 BCL2-like 1
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
CD47 CD47 molecule
CD59 CD59 molecule, complement regulatory protein
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)
F2RL2 coagulation factor II (thrombin) receptor-like 2
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
GP6 glycoprotein VI (platelet)
GPX1 glutathione peroxidase 1
GPX3 glutathione peroxidase 3
GSN gelsolin
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
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)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
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
NT5E 5'-nucleotidase, ecto (CD73)
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
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
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
SLPI secretory leukocyte peptidase inhibitor
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STIM1 stromal interaction molecule 1
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 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
TUBB1 tubulin, beta 1 class VI
VAMP3 vesicle-associated membrane protein 3
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