abnormal bleeding Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001892
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Genes

261 genes associated with the abnormal bleeding 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
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACTN1 actinin, alpha 1
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGGF1 angiogenic factor with G patch and FHA domains 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOB aldolase B, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
ANKRD26 ankyrin repeat domain 26
ANO6 anoctamin 6
APC adenomatous polyposis coli
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARHGAP31 Rho GTPase activating protein 31
ARMC5 armadillo repeat containing 5
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATOH7 atonal homolog 7 (Drosophila)
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
BEST1 bestrophin 1
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMPR1A bone morphogenetic protein receptor, type IA
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
CAPN5 calpain 5
CBS cystathionine-beta-synthase
CD19 CD19 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD81 CD81 molecule
CECR1 cat eye syndrome chromosome region, candidate 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CST3 cystatin C
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DNM2 dynamin 2
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
DTNBP1 dystrobrevin binding protein 1
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
EPOR erythropoietin receptor
ETHE1 ethylmalonic encephalopathy 1
F10 coagulation factor X
F11 coagulation factor XI
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
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FERMT1 fermitin family member 1
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FKBP14 FK506 binding protein 14, 22 kDa
FN1 fibronectin 1
FZD4 frizzled class receptor 4
G6PC glucose-6-phosphatase, catalytic subunit
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GREM1 gremlin 1, DAN family BMP antagonist
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICOS inducible T-cell co-stimulator
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
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)
IVD isovaleryl-CoA dehydrogenase
JAK2 Janus kinase 2
KIF1B kinesin family member 1B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LBR lamin B receptor
LMAN1 lectin, mannose-binding, 1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP5 low density lipoprotein receptor-related protein 5
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYST lysosomal trafficking regulator
MASTL microtubule associated serine/threonine kinase-like
MCFD2 multiple coagulation factor deficiency 2
MEFV Mediterranean fever
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MUT methylmalonyl CoA mutase
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
NOTCH1 notch 1
NOTCH3 notch 3
OCLN occludin
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDCD10 programmed cell death 10
PDE11A phosphodiesterase 11A
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEPD peptidase D
PEX12 peroxisomal biogenesis factor 12
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAU plasminogen activator, urokinase
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
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
PRKCSH protein kinase C substrate 80K-H
PRLR prolactin receptor
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated)
RB1 retinoblastoma 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RET ret proto-oncogene
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
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
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC63 SEC63 homolog (S. cerevisiae)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SH2B3 SH2B adaptor protein 3
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
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SNAP29 synaptosomal-associated protein, 29kDa
SNX10 sorting nexin 10
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
STK11 serine/threonine kinase 11
TBX1 T-box 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TEK TEK tyrosine kinase, endothelial
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFB2 transforming growth factor, beta 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
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
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UFD1L ubiquitin fusion degradation 1 like (yeast)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VKORC1 vitamin K epoxide reductase complex, subunit 1
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
ZNF469 zinc finger protein 469