abnormality of coagulation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. (Human Phenotype Ontology, HP_0001928)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001928
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACVRL1 activin A receptor type II-like 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGGF1 angiogenic factor with G patch and FHA domains 1
AKR1D1 aldo-keto reductase family 1, member D1
ALG6 ALG6, alpha-1,3-glucosyltransferase
AMACR alpha-methylacyl-CoA racemase
ANO6 anoctamin 6
APOE apolipoprotein E
ATRX alpha thalassemia/mental retardation syndrome X-linked
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CALR calreticulin
CLCN7 chloride channel, voltage-sensitive 7
COL3A1 collagen, type III, alpha 1
CTC1 CTS telomere maintenance complex component 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ENG endoglin
EPOR erythropoietin receptor
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
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GNAS GNAS complex locus
HRG histidine-rich glycoprotein
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGHV4-34 immunoglobulin heavy variable 4-34
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KAT6B K(lysine) acetyltransferase 6B
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LMAN1 lectin, mannose-binding, 1
LYST lysosomal trafficking regulator
MAP2K2 mitogen-activated protein kinase kinase 2
MCFD2 multiple coagulation factor deficiency 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MYD88 myeloid differentiation primary response 88
NBEAL2 neurobeachin-like 2
NF1 neurofibromin 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGM1 phosphoglucomutase 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMM2 phosphomannomutase 2
PRF1 perforin 1 (pore forming protein)
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBM8A RNA binding motif protein 8A
RFT1 RFT1 homolog (S. cerevisiae)
RIT1 Ras-like without CAAX 1
RTEL1 regulator of telomere elongation helicase 1
RYR1 ryanodine receptor 1 (skeletal)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SH2B3 SH2B adaptor protein 3
SMAD4 SMAD family member 4
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SRD5A3 steroid 5 alpha-reductase 3
STIM1 stromal interaction molecule 1
STX11 syntaxin 11
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBD thrombomodulin
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
UNC13D unc-13 homolog D (C. elegans)
USB1 U6 snRNA biogenesis 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VKORC1 vitamin K epoxide reductase complex, subunit 1
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WRAP53 WD repeat containing, antisense to TP53
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase