abnormality of blood circulation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of blood circulation. (Human Phenotype Ontology, HP_0011028)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011028
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Genes

139 genes associated with the abnormality of blood circulation 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
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
AGGF1 angiogenic factor with G patch and FHA domains 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOB aldolase B, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
APC adenomatous polyposis coli
APP amyloid beta (A4) precursor protein
ARHGAP31 Rho GTPase activating protein 31
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATOH7 atonal homolog 7 (Drosophila)
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BEST1 bestrophin 1
BMPR1A bone morphogenetic protein receptor, type IA
C4A complement component 4A (Rodgers blood group)
CAPN5 calpain 5
CBS cystathionine-beta-synthase
CECR1 cat eye syndrome chromosome region, candidate 1
CISD2 CDGSH iron sulfur domain 2
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COMT catechol-O-methyltransferase
CPT2 carnitine palmitoyltransferase 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
DNM2 dynamin 2
DOCK6 dedicator of cytokinesis 6
DOCK8 dedicator of cytokinesis 8
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
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)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FN1 fibronectin 1
FZD4 frizzled class receptor 4
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
GP1BB glycoprotein Ib (platelet), beta polypeptide
GREM1 gremlin 1, DAN family BMP antagonist
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPS1 Hermansky-Pudlak syndrome 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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
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
LBR lamin B receptor
LRP5 low density lipoprotein receptor-related protein 5
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYST lysosomal trafficking regulator
MEFV Mediterranean fever
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH9 myosin, heavy chain 9, non-muscle
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
NOTCH3 notch 3
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDCD10 programmed cell death 10
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAU plasminogen activator, urokinase
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PRKCSH protein kinase C substrate 80K-H
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RB1 retinoblastoma 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RET ret proto-oncogene
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
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)
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SH2B3 SH2B adaptor protein 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD4 SMAD family member 4
SNAP29 synaptosomal-associated protein, 29kDa
STAT4 signal transducer and activator of transcription 4
STK11 serine/threonine kinase 11
TBX1 T-box 1
TEK TEK tyrosine kinase, endothelial
TET2 tet methylcytosine dioxygenase 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLR4 toll-like receptor 4
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
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1