internal hemorrhage Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of hemorrhage within the body. (Human Phenotype Ontology, HP_0011029)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001634
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Genes

241 gene mutations causing the internal 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
ADAM17 ADAM metallopeptidase domain 17
ADGRA2 adhesion G protein-coupled receptor A2
ADGRG6 adhesion G protein-coupled receptor G6
ADM adrenomedullin
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
AMHR2 anti-Mullerian hormone receptor, type II
ANKRD17 ankyrin repeat domain 17
ANXA7 annexin A7
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARID4A AT rich interactive domain 4A (RBP1-like)
ATOX1 antioxidant 1 copper chaperone
ATP7A ATPase, Cu++ transporting, alpha polypeptide
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
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBFB core-binding factor, beta subunit
CCM2 cerebral cavernous malformation 2
CCR2 chemokine (C-C motif) receptor 2
CEP41 centrosomal protein 41kDa
CHD2 chromodomain helicase DNA binding protein 2
CLEC1B C-type lectin domain family 1, member B
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
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)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
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
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DNM1L dynamin 1-like
E2F5 E2F transcription factor 5, p130-binding
ENG endoglin
EP300 E1A binding protein p300
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)
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
FERMT3 fermitin family member 3
FES FES proto-oncogene, tyrosine kinase
FGA fibrinogen alpha chain
FGF16 fibroblast growth factor 16
FGG fibrinogen gamma chain
FKBP1A FK506 binding protein 1A, 12kDa
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT4 fms-related tyrosine kinase 4
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
GAB1 GRB2-associated binding protein 1
GFI1B growth factor independent 1B transcription repressor
GGCX gamma-glutamyl carboxylase
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GLRX3 glutaredoxin 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPR4 G protein-coupled receptor 4
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)
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
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
INHA inhibin, alpha
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
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
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB8 integrin, beta 8
JAG1 jagged 1
JAM3 junctional adhesion molecule 3
JUP junction plakoglobin
KDM2B lysine (K)-specific demethylase 2B
KIF27 kinesin family member 27
KLF2 Kruppel-like factor 2
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
LPAR4 lysophosphatidic acid receptor 4
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRP1 low density lipoprotein receptor-related protein 1
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
MAPK7 mitogen-activated protein kinase 7
MED30 mediator complex subunit 30
MGP matrix Gla protein
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
MUS81 MUS81 structure-specific endonuclease subunit
MUT methylmalonyl CoA mutase
MYO18B myosin XVIIIB
NACA nascent polypeptide-associated complex alpha subunit
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NF1 neurofibromin 1
NFE2 nuclear factor, erythroid 2
NFE2L2 nuclear factor, erythroid 2-like 2
NME5 NME/NM23 family member 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NR1H3 nuclear receptor subfamily 1, group H, member 3
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PDGFA platelet-derived growth factor alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
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)
PKP2 plakophilin 2
PLAT plasminogen activator, tissue
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLG plasminogen
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PNPLA6 patatin-like phospholipase domain containing 6
POR P450 (cytochrome) oxidoreductase
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
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RAMP2 receptor (G protein-coupled) activity modifying protein 2
RB1CC1 RB1-inducible coiled-coil 1
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
RSPO2 R-spondin 2
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SCG5 secretogranin V
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLIT3 slit homolog 3 (Drosophila)
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOCS7 suppressor of cytokine signaling 7
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
TBK1 TANK-binding kinase 1
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
TIMP1 TIMP metallopeptidase inhibitor 1
TLL1 tolloid-like 1
TMSB4X thymosin beta 4, X-linked
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TNNT3 troponin T type 3 (skeletal, fast)
TP73 tumor protein p73
TSC2 tuberous sclerosis 2
TSPAN12 tetraspanin 12
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
UBE4B ubiquitination factor E4B
ULK4 unc-51 like kinase 4
USP18 ubiquitin specific peptidase 18
VEGFA vascular endothelial growth factor A
VEZF1 vascular endothelial zinc finger 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
ZFAND5 zinc finger, AN1-type domain 5
ZNF385A zinc finger protein 385A