hemorrhage Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels (Mammalian Phenotype Ontology, MP_0001914)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001914
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Genes

431 gene mutations causing the hemorrhage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABI1 abl-interactor 1
ACKR3 atypical chemokine receptor 3
ACVRL1 activin A receptor type II-like 1
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAR adenosine deaminase, RNA-specific
ADGRA2 adhesion G protein-coupled receptor A2
ADGRG6 adhesion G protein-coupled receptor G6
ADIPOQ adiponectin, C1Q and collagen domain containing
ADM adrenomedullin
AIP aryl hydrocarbon receptor interacting protein
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
AMHR2 anti-Mullerian hormone receptor, type II
AMOT angiomotin
ANKRD17 ankyrin repeat domain 17
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANXA7 annexin A7
AP1M1 adaptor-related protein complex 1, mu 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
APOB apolipoprotein B
AQP3 aquaporin 3 (Gill blood group)
ARF6 ADP-ribosylation factor 6
ARID1A AT rich interactive domain 1A (SWI-like)
ARID4A AT rich interactive domain 4A (RBP1-like)
ATE1 arginyltransferase 1
ATOX1 antioxidant 1 copper chaperone
ATP11A ATPase, class VI, type 11A
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AURKB aurora kinase B
B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
BIRC6 baculoviral IAP repeat containing 6
BRAF B-Raf proto-oncogene, serine/threonine kinase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C1GALT1C1 C1GALT1-specific chaperone 1
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAPNS1 calpain, small subunit 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CCDC134 coiled-coil domain containing 134
CCM2 cerebral cavernous malformation 2
CCR2 chemokine (C-C motif) receptor 2
CDON cell adhesion associated, oncogene regulated
CEP41 centrosomal protein 41kDa
CFLAR CASP8 and FADD-like apoptosis regulator
CHD2 chromodomain helicase DNA binding protein 2
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHTOP chromatin target of PRMT1
CLEC1B C-type lectin domain family 1, member B
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CREBBP CREB binding protein
CRHR1 corticotropin releasing hormone receptor 1
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL7 cullin 7
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXADR coxsackie virus and adenovirus receptor
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYCS cytochrome c, somatic
CYFIP2 cytoplasmic FMR1 interacting protein 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
CYR61 cysteine-rich, angiogenic inducer, 61
DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55
DES desmin
DLL1 delta-like 1 (Drosophila)
DNM1L dynamin 1-like
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOT1L DOT1-like histone H3K79 methyltransferase
E2F4 E2F transcription factor 4, p107/p130-binding
E2F5 E2F transcription factor 5, p130-binding
ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ENG endoglin
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPHA3 EPH receptor A3
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR1 estrogen receptor 1
F10 coagulation factor X
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F9 coagulation factor IX
FADD Fas (TNFRSF6)-associated via death domain
FAIM Fas apoptotic inhibitory molecule
FANCA Fanconi anemia, complementation group A
FBLN1 fibulin 1
FBN1 fibrillin 1
FBXL5 F-box and leucine-rich repeat protein 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide
FERMT3 fermitin family member 3
FES FES proto-oncogene, tyrosine kinase
FFAR2 free fatty acid receptor 2
FGA fibrinogen alpha chain
FGF16 fibroblast growth factor 16
FGG fibrinogen gamma chain
FGL2 fibrinogen-like 2
FH fumarate hydratase
FKBP1A FK506 binding protein 1A, 12kDa
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNA filamin A, alpha
FLRT2 fibronectin leucine rich transmembrane protein 2
FLT4 fms-related tyrosine kinase 4
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FN1 fibronectin 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXM1 forkhead box M1
FOXP1 forkhead box P1
FOXP3 forkhead box P3
FOXS1 forkhead box S1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
FZD5 frizzled class receptor 5
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
G6PD glucose-6-phosphate dehydrogenase
GAB1 GRB2-associated binding protein 1
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GLRB glycine receptor, beta
GLRX3 glutaredoxin 3
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPR4 G protein-coupled receptor 4
GRB2 growth factor receptor-bound protein 2
GRHL3 grainyhead-like 3 (Drosophila)
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GYS1 glycogen synthase 1 (muscle)
HAND1 heart and neural crest derivatives expressed 1
HDAC7 histone deacetylase 7
HDAC8 histone deacetylase 8
HEG1 heart development protein with EGF-like domains 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHAT hedgehog acyltransferase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HOPX HOP homeobox
HSF2 heat shock transcription factor 2
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IGF2R insulin-like growth factor 2 receptor
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL18 interleukin 18
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL6ST interleukin 6 signal transducer
INHA inhibin, alpha
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INS insulin
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGA7 integrin, alpha 7
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB8 integrin, beta 8
JAG1 jagged 1
JAM3 junctional adhesion molecule 3
JARID2 jumonji, AT rich interactive domain 2
JUP junction plakoglobin
KAT2A K(lysine) acetyltransferase 2A
KAT6A K(lysine) acetyltransferase 6A
KDM2B lysine (K)-specific demethylase 2B
KIAA0586 KIAA0586
KIDINS220 kinase D-interacting substrate, 220kDa
KIF1BP KIF1 binding protein
KIF27 kinesin family member 27
KIFAP3 kinesin-associated protein 3
KITLG KIT ligand
KL klotho
KLF2 Kruppel-like factor 2
KLF3 Kruppel-like factor 3 (basic)
KLHL21 kelch-like family member 21
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KMT2A lysine (K)-specific methyltransferase 2A
KRT8 keratin 8, type II
LAMA4 laminin, alpha 4
LAMC1 laminin, gamma 1 (formerly LAMB2)
LATS1 large tumor suppressor kinase 1
LATS2 large tumor suppressor kinase 2
LIF leukemia inhibitory factor
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPAR1 lysophosphatidic acid receptor 1
LPAR4 lysophosphatidic acid receptor 4
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRP1 low density lipoprotein receptor-related protein 1
LSR lipolysis stimulated lipoprotein receptor
LUM lumican
LYZ lysozyme
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN1A2 mannosidase, alpha, class 1A, member 2
MAP2K4 mitogen-activated protein kinase kinase 4
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MAPK7 mitogen-activated protein kinase 7
MB myoglobin
MBD4 methyl-CpG binding domain protein 4
MECOM MDS1 and EVI1 complex locus
MED30 mediator complex subunit 30
MEIS1 Meis homeobox 1
MEN1 multiple endocrine neoplasia I
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIA3 melanoma inhibitory activity family, member 3
MKL2 MKL/myocardin-like 2
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MMP10 matrix metallopeptidase 10
MSI1 musashi RNA-binding protein 1
MTTP microsomal triglyceride transfer protein
MUC2 mucin 2, oligomeric mucus/gel-forming
MUS81 MUS81 structure-specific endonuclease subunit
MUT methylmalonyl CoA mutase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYO18B myosin XVIIIB
MYO1E myosin IE
NACA nascent polypeptide-associated complex alpha subunit
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NGFR nerve growth factor receptor
NLRP6 NLR family, pyrin domain containing 6
NME5 NME/NM23 family member 5
NOG noggin
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH2 notch 2
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR2F2 nuclear receptor subfamily 2, group F, member 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OED Oregon eye disease
OPA1 optic atrophy 1 (autosomal dominant)
OSR1 odd-skipped related transciption factor 1
OVOL2 ovo-like zinc finger 2
PARVA parvin, alpha
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGLYRP1 peptidoglycan recognition protein 1
PGLYRP2 peptidoglycan recognition protein 2
PGLYRP3 peptidoglycan recognition protein 3
PGLYRP4 peptidoglycan recognition protein 4
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PILRA paired immunoglobin-like type 2 receptor alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKNOX1 PBX/knotted 1 homeobox 1
PKP2 plakophilin 2
PLAT plasminogen activator, tissue
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLVAP plasmalemma vesicle associated protein
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POR P450 (cytochrome) oxidoreductase
PPAP2B phosphatidic acid phosphatase type 2B
PRDM1 PR domain containing 1, with ZNF domain
PRDX6 peroxiredoxin 6
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PSEN1 presenilin 1
PSEN2 presenilin 2
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTK2 protein tyrosine kinase 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RAD17 RAD17 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RAP1B RAP1B, member of RAS oncogene family
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1
RASA3 RAS p21 protein activator 3
RASIP1 Ras interacting protein 1
RB1CC1 RB1-inducible coiled-coil 1
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RHEB Ras homolog enriched in brain
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RSPO2 R-spondin 2
RSPO3 R-spondin 3
RTEL1 regulator of telomere elongation helicase 1
RUNDC1 RUN domain containing 1
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
S1PR1 sphingosine-1-phosphate receptor 1
SCG5 secretogranin V
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SGPL1 sphingosine-1-phosphate lyase 1
SHB Src homology 2 domain containing adaptor protein B
SKI SKI proto-oncogene
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC31A1 solute carrier family 31 (copper transporter), member 1
SLIT3 slit homolog 3 (Drosophila)
SLITRK5 SLIT and NTRK-like family, member 5
SMAD5 SMAD family member 5
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SOCS7 suppressor of cytokine signaling 7
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SP2 Sp2 transcription factor
SPTBN1 spectrin, beta, non-erythrocytic 1
SS18 synovial sarcoma translocation, chromosome 18
STIM1 stromal interaction molecule 1
SUCO SUN domain containing ossification factor
SUFU suppressor of fused homolog (Drosophila)
SYK spleen tyrosine kinase
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBK1 TANK-binding kinase 1
TBP TATA box binding protein
TBX4 T-box 4
TBX6 T-box 6
TCF21 transcription factor 21
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDG thymine-DNA glycosylase
TEK TEK tyrosine kinase, endothelial
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBS1 thrombospondin 1
THBS2 thrombospondin 2
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIPARP TCDD-inducible poly(ADP-ribose) polymerase
TLL1 tolloid-like 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM98 transmembrane protein 98
TMSB4X thymosin beta 4, X-linked
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TNNT3 troponin T type 3 (skeletal, fast)
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TP73 tumor protein p73
TREML1 triggering receptor expressed on myeloid cells-like 1
TRIM54 tripartite motif containing 54
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TSC2 tuberous sclerosis 2
TSPAN12 tetraspanin 12
TTN titin
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UBE4B ubiquitination factor E4B
UBP1 upstream binding protein 1 (LBP-1a)
ULK4 unc-51 like kinase 4
USP18 ubiquitin specific peptidase 18
USP3 ubiquitin specific peptidase 3
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
VEZF1 vascular endothelial zinc finger 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPR1 vasoactive intestinal peptide receptor 1
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
WASF2 WAS protein family, member 2
WNK1 WNK lysine deficient protein kinase 1
WNT7B wingless-type MMTV integration site family, member 7B
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YBX1 Y box binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZFAND5 zinc finger, AN1-type domain 5
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZNF385A zinc finger protein 385A