abnormality of the coagulation cascade Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. (Human Phenotype Ontology, HP_0003256)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0003256
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Genes

241 genes associated with the abnormality of the coagulation cascade phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
PROCR protein C receptor, endothelial 3.37234
EDEM2 ER degradation enhancer, mannosidase alpha-like 2 3.35767
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 3.31976
MYH7B myosin, heavy chain 7B, cardiac muscle, beta 3.31627
GSS glutathione synthetase 3.09526
ACSS2 acyl-CoA synthetase short-chain family member 2 3.09132
MMP24 matrix metallopeptidase 24 (membrane-inserted) 2.92774
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 2.90452
ITCH itchy E3 ubiquitin protein ligase 2.88986
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 2.75866
CNBD2 cyclic nucleotide binding domain containing 2 2.52979
PHF20 PHD finger protein 20 2.50957
FER1L4 fer-1-like family member 4, pseudogene (functional) 2.50171
NFS1 NFS1 cysteine desulfurase 2.49525
UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 2.49387
ROMO1 reactive oxygen species modulator 1 2.49326
CPNE1 copine I 2.48562
RBM12 RNA binding motif protein 12 2.483
RALY RALY heterogeneous nuclear ribonucleoprotein 2.43348
FAM83C family with sequence similarity 83, member C 2.36406
AHCY adenosylhomocysteinase 2.35051
PROC protein C (inactivator of coagulation factors Va and VIIIa) 2.34145
ASIP agouti signaling protein 2.32803
KNG1 kininogen 1 2.3241
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 2.32253
EIF6 eukaryotic translation initiation factor 6 2.30265
GGT7 gamma-glutamyltransferase 7 2.14193
CHMP4B charged multivesicular body protein 4B 2.10567
SURF4 surfeit 4 2.09225
ERCC3 excision repair cross-complementation group 3 2.03554
FGB fibrinogen beta chain 2.03403
MAP3K2 mitogen-activated protein kinase kinase kinase 2 2.02775
GDF5 growth differentiation factor 5 2.01596
CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 2.01091
HRG histidine-rich glycoprotein 1.92013
GCKR glucokinase (hexokinase 4) regulator 1.84665
NCOA6 nuclear receptor coactivator 6 1.83497
RBM39 RNA binding motif protein 39 1.82653
ERGIC3 ERGIC and golgi 3 1.81766
C20ORF173 chromosome 20 open reading frame 173 1.80788
EPB41L1 erythrocyte membrane protein band 4.1-like 1 1.79589
AAR2 AAR2 splicing factor homolog (S. cerevisiae) 1.76572
FGA fibrinogen alpha chain 1.74592
MYO7B myosin VIIB 1.5287
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 1.51108
GPN1 GPN-loop GTPase 1 1.47045
IWS1 IWS1 homolog (S. cerevisiae) 1.45118
ZNF512 zinc finger protein 512 1.43571
DLGAP4 discs, large (Drosophila) homolog-associated protein 4 1.42349
C2ORF16 chromosome 2 open reading frame 16 1.41367
F7 coagulation factor VII (serum prothrombin conversion accelerator) 1.37431
VWF von Willebrand factor 1.36317
CEP250 centrosomal protein 250kDa 1.35145
TP53INP2 tumor protein p53 inducible nuclear protein 2 1.31158
C5ORF56 chromosome 5 open reading frame 56 1.24226
NDRG3 NDRG family member 3 1.23494
SOGA1 suppressor of glucose, autophagy associated 1 1.22624
SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 1.22112
BAZ1B bromodomain adjacent to zinc finger domain, 1B 1.20225
SPAG4 sperm associated antigen 4 1.18633
F11 coagulation factor XI 1.15669
IL6R interleukin 6 receptor 0.68274
STXBP5 syntaxin binding protein 5 (tomosyn) 0.517934
SURF2 surfeit 2 0.498867
JMJD1C jumonji domain containing 1C 0.49666
NLRP3 NLR family, pyrin domain containing 3 0.445689
VAV2 vav 2 guanine nucleotide exchange factor 0.39187
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.376528
DCHS2 dachsous cadherin-related 2 0.373524
ASIC2 acid sensing (proton gated) ion channel 2 0.370544
FGG fibrinogen gamma chain 0.367568
STAB2 stabilin 2 0.367064
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 0.363629
ANKRD6 ankyrin repeat domain 6 0.362606
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.360941
CD300LF CD300 molecule-like family member f 0.357287
CHD9 chromodomain helicase DNA binding protein 9 0.356178
IRF1 interferon regulatory factor 1 0.352511
ESR1 estrogen receptor 1 0.34822
SPPL2A signal peptide peptidase like 2A 0.346258
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.345286
PLEC plectin 0.34437
NRG1 neuregulin 1 0.341328
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 0.340494
F5 coagulation factor V (proaccelerin, labile factor) 0.338165
MS4A6A membrane-spanning 4-domains, subfamily A, member 6A 0.33652
TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) 0.333143
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 0.326493
HGFAC HGF activator 0.326493
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) 0.323582
AGBL1 ATP/GTP binding protein-like 1 0.321444
ERBB4 erb-b2 receptor tyrosine kinase 4 0.308777
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 0.307949
C6ORF10 chromosome 6 open reading frame 10 0.295701
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 0.292592
SYNE1 spectrin repeat containing, nuclear envelope 1 0.289933
PCCB propionyl CoA carboxylase, beta polypeptide 0.289933
HDLBP high density lipoprotein binding protein 0.289842
CNTNAP2 contactin associated protein-like 2 0.276636
CNTNAP5 contactin associated protein-like 5 0.275328
HNF4A hepatocyte nuclear factor 4, alpha 0.273639
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 0.272255
CMTM8 CKLF-like MARVEL transmembrane domain containing 8 0.271375
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.268679
UMODL1 uromodulin-like 1 0.263478
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.262676
LPP LIM domain containing preferred translocation partner in lipoma 0.261398
PHACTR2 phosphatase and actin regulator 2 0.260456
C19ORF47 chromosome 19 open reading frame 47 0.258554
TBC1D22A TBC1 domain family, member 22A 0.257976
GCA grancalcin, EF-hand calcium binding protein 0.257882
IL1RN interleukin 1 receptor antagonist 0.255031
MAP3K10 mitogen-activated protein kinase kinase kinase 10 0.254733
UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 0.254156
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.254086
LRRC4C leucine rich repeat containing 4C 0.253402
CEP128 centrosomal protein 128kDa 0.253335
LGI1 leucine-rich, glioma inactivated 1 0.252439
SEZ6L seizure related 6 homolog (mouse)-like 0.251087
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.249661
AOX2P aldehyde oxidase 2 pseudogene 0.249393
FRY furry homolog (Drosophila) 0.247765
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 0.247385
PLCH1 phospholipase C, eta 1 0.245669
NFIB nuclear factor I/B 0.24502
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.24388
PEX19 peroxisomal biogenesis factor 19 0.243591
COPA coatomer protein complex, subunit alpha 0.243343
TANGO6 transport and golgi organization 6 homolog (Drosophila) 0.243203
OPCML opioid binding protein/cell adhesion molecule-like 0.242004
C10ORF11 chromosome 10 open reading frame 11 0.241719
FAM184A family with sequence similarity 184, member A 0.241137
BTBD9 BTB (POZ) domain containing 9 0.241137
AKT2 v-akt murine thymoma viral oncogene homolog 2 0.24052
GUCY1A2 guanylate cyclase 1, soluble, alpha 2 0.23993
PTPRG protein tyrosine phosphatase, receptor type, G 0.239496
ZRANB1 zinc finger, RAN-binding domain containing 1 0.23887
TPP2 tripeptidyl peptidase II 0.238743
IQSEC1 IQ motif and Sec7 domain 1 0.238642
ZNF423 zinc finger protein 423 0.238567
SPOPL speckle-type POZ protein-like 0.237626
KAZN kazrin, periplakin interacting protein 0.237349
ADCY2 adenylate cyclase 2 (brain) 0.237235
FBN3 fibrillin 3 0.237213
PRKG1 protein kinase, cGMP-dependent, type I 0.237167
DLG3 discs, large homolog 3 (Drosophila) 0.236506
TMEM56-RWDD3 TMEM56-RWDD3 readthrough 0.236335
FASTKD3 FAST kinase domains 3 0.236041
WRNIP1 Werner helicase interacting protein 1 0.236041
ANTXR1 anthrax toxin receptor 1 0.235332
PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) 0.234789
CUX2 cut-like homeobox 2 0.234713
SGIP1 SH3-domain GRB2-like (endophilin) interacting protein 1 0.234676
MDM1 Mdm1 nuclear protein homolog (mouse) 0.233451
TAOK3 TAO kinase 3 0.233127
LOC285768 uncharacterized LOC285768 0.232647
CHN2 chimerin 2 0.232615
TMEM56 transmembrane protein 56 0.232358
MAP6 microtubule-associated protein 6 0.232215
NEB nebulin 0.232184
RAD50 RAD50 homolog (S. cerevisiae) 0.231331
UVSSA UV-stimulated scaffold protein A 0.230417
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 0.229089
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.228947
C15ORF27 chromosome 15 open reading frame 27 0.228807
PEA15 phosphoprotein enriched in astrocytes 15 0.228807
RAP1GAP RAP1 GTPase activating protein 0.226005
SPIRE1 spire-type actin nucleation factor 1 0.225889
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.225434
INPP5K inositol polyphosphate-5-phosphatase K 0.225102
DOCK2 dedicator of cytokinesis 2 0.224248
DCAF8 DDB1 and CUL4 associated factor 8 0.224042
SV2B synaptic vesicle glycoprotein 2B 0.223941
ZFHX4 zinc finger homeobox 4 0.223839
GPR6 G protein-coupled receptor 6 0.223343
AHCYL2 adenosylhomocysteinase-like 2 0.223343
DSCR8 Down syndrome critical region 8 0.222213
DISC1 disrupted in schizophrenia 1 0.221078
ZC3H18 zinc finger CCCH-type containing 18 0.220745
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.220663
FAM134A family with sequence similarity 134, member A 0.220501
NT5C2 5'-nucleotidase, cytosolic II 0.22042
FHIT fragile histidine triad 0.219258
NWD2 NACHT and WD repeat domain containing 2 0.219109
NCALD neurocalcin delta 0.218673
SNPH syntaphilin 0.218601
SP4 Sp4 transcription factor 0.218601
NCK2 NCK adaptor protein 2 0.218179
CSMD1 CUB and Sushi multiple domains 1 0.217972
LRRC28 leucine rich repeat containing 28 0.217303
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.216852
RHOBTB1 Rho-related BTB domain containing 1 0.216291
PTPRD protein tyrosine phosphatase, receptor type, D 0.21623
FGD5 FYVE, RhoGEF and PH domain containing 5 0.216109
CDH13 cadherin 13 0.21575
SERINC5 serine incorporator 5 0.21575
BAZ2B bromodomain adjacent to zinc finger domain, 2B 0.215516
TM7SF3 transmembrane 7 superfamily member 3 0.215458
CTIF CBP80/20-dependent translation initiation factor 0.215286
SMOC1 SPARC related modular calcium binding 1 0.214506
PAPPA pregnancy-associated plasma protein A, pappalysin 1 0.214078
FMN2 formin 2 0.213611
DENND1A DENN/MADD domain containing 1A 0.213611
PDLIM4 PDZ and LIM domain 4 0.213509
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6 0.213408
BRSK1 BR serine/threonine kinase 1 0.213158
S100A7A S100 calcium binding protein A7A 0.213059
RIMS2 regulating synaptic membrane exocytosis 2 0.212863
LINC00461 long intergenic non-protein coding RNA 461 0.212718
SLIT3 slit homolog 3 (Drosophila) 0.212622
ADCY10 adenylate cyclase 10 (soluble) 0.21248
DNAAF5 dynein, axonemal, assembly factor 5 0.212014
RGS20 regulator of G-protein signaling 20 0.211877
SYCP1 synaptonemal complex protein 1 0.211741
ALLC allantoicase 0.211741
NCAM2 neural cell adhesion molecule 2 0.21108
MECOM MDS1 and EVI1 complex locus 0.210531
ACSBG2 acyl-CoA synthetase bubblegum family member 2 0.210324
FSTL4 follistatin-like 4 0.210041
TEX11 testis expressed 11 0.209841
ARHGEF37 Rho guanine nucleotide exchange factor (GEF) 37 0.209723
IMMT inner membrane protein, mitochondrial 0.209684
DHRS4L1 dehydrogenase/reductase (SDR family) member 4 like 1 0.209297
LOC285556 uncharacterized LOC285556 0.20781
SLFNL1 schlafen-like 1 0.207707
NCSTN nicastrin 0.207571
GAS8 growth arrest-specific 8 0.206058
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.205798
EDIL3 EGF-like repeats and discoidin I-like domains 3 0.205724
NRXN3 neurexin 3 0.204724
NECAB2 N-terminal EF-hand calcium binding protein 2 0.204449
POU2F1 POU class 2 homeobox 1 0.204449
CRABP1 cellular retinoic acid binding protein 1 0.204278
ITGA9 integrin, alpha 9 0.204278
ADCY8 adenylate cyclase 8 (brain) 0.203745
PABPC1 poly(A) binding protein, cytoplasmic 1 0.203745
PAPD7 PAP associated domain containing 7 0.20342
UNC5CL unc-5 homolog C (C. elegans)-like 0.20326
GPR139 G protein-coupled receptor 139 0.203164
DBX2 developing brain homeobox 2 0.201587
TNN tenascin N 0.196759