subcutaneous hemorrhage Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). (Human Phenotype Ontology, HP_0001933)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001933
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Genes

147 genes associated with the subcutaneous hemorrhage 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
ACP5 acid phosphatase 5, tartrate resistant
ACVRL1 activin A receptor type II-like 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AIP aryl hydrocarbon receptor interacting protein
ANKRD26 ankyrin repeat domain 26
APOE apolipoprotein E
ARMC5 armadillo repeat containing 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
CBS cystathionine-beta-synthase
CD19 CD19 molecule
CD81 CD81 molecule
CECR1 cat eye syndrome chromosome region, candidate 1
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
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DKC1 dyskeratosis congenita 1, dyskerin
DTNBP1 dystrobrevin binding protein 1
ENG endoglin
ETHE1 ethylmalonic encephalopathy 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
FERMT3 fermitin family member 3
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
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GNAS GNAS complex locus
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HOXA11 homeobox A11
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
ICOS inducible T-cell co-stimulator
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
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LYST lysosomal trafficking regulator
MASTL microtubule associated serine/threonine kinase-like
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTAP methylthioadenosine phosphorylase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
ND1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
OCLN occludin
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
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
PRKCD protein kinase C, delta
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RIN2 Ras and Rab interactor 2
RTEL1 regulator of telomere elongation helicase 1
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
SLC20A2 solute carrier family 20 (phosphate transporter), 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
SMAD4 SMAD family member 4
SNX10 sorting nexin 10
STIM1 stromal interaction molecule 1
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNXB tenascin XB
TREX1 three prime repair exonuclease 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
ZNF469 zinc finger protein 469