bruising susceptibility Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. (Human Phenotype Ontology, HP_0000978)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000978
Similar Terms
Downloads & Tools

Genes

79 genes associated with the bruising susceptibility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AIP aryl hydrocarbon receptor interacting protein
ANKRD26 ankyrin repeat domain 26
ARMC5 armadillo repeat containing 5
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
DTNBP1 dystrobrevin binding protein 1
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FKBP14 FK506 binding protein 14, 22 kDa
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GNAS GNAS complex locus
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP6 glycoprotein VI (platelet)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
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)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LYST lysosomal trafficking regulator
MASTL microtubule associated serine/threonine kinase-like
MPL MPL proto-oncogene, thrombopoietin receptor
MTAP methylthioadenosine phosphorylase
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PDE11A phosphodiesterase 11A
PLAU plasminogen activator, urokinase
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PRDM5 PR domain containing 5
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RIN2 Ras and Rab interactor 2
RUNX1 runt-related transcription factor 1
SCARB2 scavenger receptor class B, member 2
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SNX10 sorting nexin 10
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
ZNF469 zinc finger protein 469