epistaxis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Bleeding from the nose. (Experimental Factor Ontology, EFO_0003895)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000421
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Genes

48 genes associated with the epistaxis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTN1 actinin, alpha 1
ACVRL1 activin A receptor type II-like 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
ENG endoglin
EPOR erythropoietin receptor
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
LYST lysosomal trafficking regulator
MCFD2 multiple coagulation factor deficiency 2
MPL MPL proto-oncogene, thrombopoietin receptor
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PLAU plasminogen activator, urokinase
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RUNX1 runt-related transcription factor 1
SMAD4 SMAD family member 4
STIM1 stromal interaction molecule 1
TBXAS1 thromboxane A synthase 1 (platelet)
TET2 tet methylcytosine dioxygenase 2
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1