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MYLK |
myosin light chain kinase |
- Smooth Muscle Contraction
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
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- Familial thoracic aortic aneurysm and dissection (TAAD); Aortic aneurysm familial thoracic type (AAT)
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NMT1 |
N-myristoyltransferase 1 |
- Late Phase of HIV Life Cycle
- Inactivation, recovery and regulation of the phototransduction cascade
- Activation, myristolyation of BID and translocation to mitochondria
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- (1-Methyl-1h-Imidazol-2-Yl)-(3-Methyl-4-{3-[(Pyridin-3-Ylmethyl)-Amino]-Propoxy}-Benzofuran-2-Yl)-Methanone
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PAK2 |
p21 (RAC1) activated kinase 2 |
- Nef and signal transduction
- Generation of second messenger molecules
- Regulation of PAK-2p34 activity by PS-GAP/RHG10
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Stimulation of the cell death response by PAK-2p34
- FCERI mediated MAPK activation
- FCERI mediated MAPK activation
- CD28 dependent Vav1 pathway
- Ephrin signaling
- Sema3A PAK dependent Axon repulsion
- Activation of RAC1
- VEGFA-VEGFR2 Pathway
- Smooth Muscle Contraction
- VEGFR2 mediated vascular permeability
- CD209 (DC-SIGN) signaling
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- MAPK6/MAPK4 signaling
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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PPARGC1B |
PPARG coactivator 1 beta |
- PPARA activates gene expression
- Transcriptional activation of mitochondrial biogenesis
- Transcriptional activation of mitochondrial biogenesis
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
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PPP2CB |
protein phosphatase 2 catalytic subunit beta |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Spry regulation of FGF signaling
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Integration of energy metabolism
- PP2A-mediated dephosphorylation of key metabolic factors
- DARPP-32 events
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- ERK/MAPK targets
- ERKs are inactivated
- MASTL Facilitates Mitotic Progression
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- CTLA4 inhibitory signaling
- Platelet sensitization by LDL
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- RHO GTPases Activate Formins
- RAF activation
- Negative regulation of MAPK pathway
- Regulation of TP53 Degradation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Mitotic Prometaphase
- Cyclin D associated events in G1
- Cyclin A/B1/B2 associated events during G2/M transition
- Regulation of glycolysis by fructose 2,6-bisphosphate metabolism
- EML4 and NUDC in mitotic spindle formation
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PRKCZ |
protein kinase C zeta |
- GPVI-mediated activation cascade
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- VEGFR2 mediated cell proliferation
- RHO GTPases Activate NADPH Oxidases
- Estrogen-stimulated signaling through PRKCZ
- Estrogen-stimulated signaling through PRKCZ
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
- Interleukin-6 signaling
- PI3K Cascade
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- GPVI-mediated activation cascade
- Prolactin receptor signaling
- PIP3 activates AKT signaling
- Spry regulation of FGF signaling
- Signaling by SCF-KIT
- GAB1 signalosome
- Downstream signal transduction
- PECAM1 interactions
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signaling by Leptin
- Costimulation by the CD28 family
- CTLA4 inhibitory signaling
- PD-1 signaling
- Signal regulatory protein family interactions
- Netrin mediated repulsion signals
- Platelet sensitization by LDL
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- FRS-mediated FGFR2 signaling
- FRS-mediated FGFR3 signaling
- PI-3K cascade:FGFR3
- FRS-mediated FGFR4 signaling
- PI-3K cascade:FGFR4
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Regulation of IFNG signaling
- RET signaling
- Interleukin-20 family signaling
- MET activates PTPN11
- Regulation of RUNX1 Expression and Activity
- Interleukin-37 signaling
- Activated NTRK2 signals through FRS2 and FRS3
- Interferon alpha/beta signaling
- Regulation of IFNA signaling
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- FLT3 Signaling
- STAT5 Activation
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 ITD and TKD mutants
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
- Metachondromatosis
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PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
- GPVI-mediated activation cascade
- Regulation of KIT signaling
- PECAM1 interactions
- Costimulation by the CD28 family
- PD-1 signaling
- Signal regulatory protein family interactions
- Platelet sensitization by LDL
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- CD22 mediated BCR regulation
- Neutrophil degranulation
- Interferon gamma signaling
- Regulation of IFNG signaling
- Interleukin-37 signaling
- Interferon alpha/beta signaling
- Interleukin receptor SHC signaling
- Regulation of IFNA signaling
- Growth hormone receptor signaling
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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RACK1 |
receptor for activated C kinase 1 |
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- TNFR1-mediated ceramide production
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RPL10 |
ribosomal protein L10 |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Peptide chain elongation
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
- Viral mRNA Translation
- Selenocysteine synthesis
- Major pathway of rRNA processing in the nucleolus and cytosol
- Formation of a pool of free 40S subunits
- GTP hydrolysis and joining of the 60S ribosomal subunit
- Eukaryotic Translation Termination
- Regulation of expression of SLITs and ROBOs
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Growth hormone receptor signaling
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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STAT5B |
signal transducer and activator of transcription 5B |
- Prolactin receptor signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signaling by Leptin
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-20 family signaling
- Interleukin-15 signaling
- Interleukin-9 signaling
- Interleukin-2 signaling
- Interleukin-2 signaling
- Interleukin-21 signaling
- Erythropoietin activates STAT5
- STAT5 Activation
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 fusion proteins
- Growth hormone receptor signaling
- Growth hormone receptor signaling
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- Growth hormone insensitivity with immunodeficiency
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SYN1 |
synapsin I |
- Serotonin Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
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- Adenosine 5'-[gamma-thio]triphosphate
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
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TNFRSF11A |
TNF receptor superfamily member 11a |
- TNFR2 non-canonical NF-kB pathway
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
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- Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
- Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor
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TUB |
TUB bipartite transcription factor |
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- (1R,2R,3S,4R,6S)-3,4,6-Trihydroxy-5-{[(S)-hydroxy(3-hydroxy-2-oxopropoxy)phosphoryl]oxy}-1,2-cyclohexanediyl bis[dihydrogen (phosphate)]
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TYRO3 |
TYRO3 protein tyrosine kinase |
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WAS |
WASP actin nucleation promoting factor |
- Generation of second messenger molecules
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Neutropenic disorders, including the following three diseases: Kostmann syndrome; Cyclic neutropenia; X-linked neutropenia/myelodysplasia
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YWHAH |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
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ADAM12 |
ADAM metallopeptidase domain 12 |
- Signaling by EGFR
- Invadopodia formation
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