abnormal blood coagulation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description altered ability or inability of the blood to clot (Mammalian Phenotype Ontology, MP_0002551)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002551
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Genes

194 gene mutations causing the abnormal blood coagulation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACHE acetylcholinesterase (Yt blood group)
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADORA2A adenosine A2a receptor
AHR aryl hydrocarbon receptor
ALOX12 arachidonate 12-lipoxygenase
ANK1 ankyrin 1, erythrocytic
ANO6 anoctamin 6
ANXA2 annexin A2
ANXA7 annexin A7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASGR1 asialoglycoprotein receptor 1
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
C3 complement component 3
C4A complement component 4A (Rodgers blood group)
C6ORF25 chromosome 6 open reading frame 25
CAPN1 calpain 1, (mu/I) large subunit
CD151 CD151 molecule (Raph blood group)
CD36 CD36 molecule (thrombospondin receptor)
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
CPB2 carboxypeptidase B2 (plasma)
CTSD cathepsin D
DOCK7 dedicator of cytokinesis 7
DTNBP1 dystrobrevin binding protein 1
E2F3 E2F transcription factor 3
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPCAM epithelial cell adhesion molecule
F10 coagulation factor X
F11 coagulation factor XI
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F2RL2 coagulation factor II (thrombin) receptor-like 2
F2RL3 coagulation factor II (thrombin) receptor-like 3
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FADS2 fatty acid desaturase 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
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
FGL2 fibrinogen-like 2
FLNA filamin A, alpha
FOXP3 forkhead box P3
FSHR follicle stimulating hormone receptor
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GAS6 growth arrest-specific 6
GATA3 GATA binding protein 3
GDF15 growth differentiation factor 15
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide
GOLM1 golgi membrane protein 1
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP5 glycoprotein V (platelet)
GP6 glycoprotein VI (platelet)
GPX1 glutathione peroxidase 1
GPX3 glutathione peroxidase 3
GRIP1 glutamate receptor interacting protein 1
GSN gelsolin
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY1B3 guanylate cyclase 1, soluble, beta 3
HMOX1 heme oxygenase 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HRG histidine-rich glycoprotein
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)
JUP junction plakoglobin
KIAA1715 KIAA1715
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KNG1 kininogen 1
LAT linker for activation of T cells
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)
LYST lysosomal trafficking regulator
MERTK MER proto-oncogene, tyrosine kinase
MFAP2 microfibrillar-associated protein 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MITF microphthalmia-associated transcription factor
MPL MPL proto-oncogene, thrombopoietin receptor
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH3 notch 3
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
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDLIM1 PDZ and LIM domain 1
PDLIM7 PDZ and LIM domain 7 (enigma)
PF4 platelet factor 4
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
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLD1 phospholipase D1, phosphatidylcholine-specific
PLEK pleckstrin
PLG plasminogen
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDX6 peroxiredoxin 6
PRKCQ protein kinase C, theta
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PROS1 protein S (alpha)
PROZ protein Z, vitamin K-dependent plasma glycoprotein
PTGER3 prostaglandin E receptor 3 (subtype EP3)
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
PTTG1 pituitary tumor-transforming 1
RAB27A RAB27A, member RAS oncogene family
RAB27B RAB27B, member RAS oncogene family
RABGGTA Rab geranylgeranyltransferase, alpha subunit
RANBP10 RAN binding protein 10
RAP1B RAP1B, member of RAS oncogene family
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SEPT5 septin 5
SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SHH sonic hedgehog
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SLPI secretory leukocyte peptidase inhibitor
SMAD6 SMAD family member 6
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STIM1 stromal interaction molecule 1
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SVIL supervillin
TBP TATA box binding protein
TBXA2R thromboxane A2 receptor
TBXAS1 thromboxane A synthase 1 (platelet)
TEC tec protein tyrosine kinase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
THBS2 thrombospondin 2
TREML1 triggering receptor expressed on myeloid cells-like 1
TREX1 three prime repair exonuclease 1
TUBB1 tubulin, beta 1 class VI
TUSC2 tumor suppressor candidate 2
TXNIP thioredoxin interacting protein
TYRP1 tyrosinase-related protein 1
VAMP3 vesicle-associated membrane protein 3
VAMP8 vesicle-associated membrane protein 8
VASP vasodilator-stimulated phosphoprotein
VKORC1 vitamin K epoxide reductase complex, subunit 1
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VTN vitronectin
VWF von Willebrand factor
WDR1 WD repeat domain 1
WRN Werner syndrome, RecQ helicase-like
ZNF385A zinc finger protein 385A