abnormality of the coagulation cascade Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0003256
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Genes

46 genes associated with the abnormality of the coagulation cascade phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKR1D1 aldo-keto reductase family 1, member D1
ALG6 ALG6, alpha-1,3-glucosyltransferase
AMACR alpha-methylacyl-CoA racemase
ANO6 anoctamin 6
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
F10 coagulation factor X
F11 coagulation factor XI
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
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
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FLNA filamin A, alpha
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
LMAN1 lectin, mannose-binding, 1
MCFD2 multiple coagulation factor deficiency 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPI mannose phosphate isomerase
NBEAL2 neurobeachin-like 2
PGM1 phosphoglucomutase 1
PMM2 phosphomannomutase 2
PRF1 perforin 1 (pore forming protein)
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RFT1 RFT1 homolog (S. cerevisiae)
RYR1 ryanodine receptor 1 (skeletal)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SRD5A3 steroid 5 alpha-reductase 3
STX11 syntaxin 11
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
UNC13D unc-13 homolog D (C. elegans)
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase