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MYH9 |
myosin heavy chain 9 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- EPHA-mediated growth cone collapse
- Sema4D induced cell migration and growth-cone collapse
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases Activate ROCKs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- CD163 mediating an anti-inflammatory response
- FCGR3A-mediated phagocytosis
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- Macrothrombocytopenia; May-Hegglin anomaly; Sebastian syndrome; Fechtner syndrome; Epstein syndrome
- Deafness, autosomal dominant
- MYH9-related kidney diseases, including: Epstein syndrome; Fechtner syndrome
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MYO1C |
myosin IC |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- FCGR3A-mediated phagocytosis
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MZF1 |
myeloid zinc finger 1 |
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NCK1 |
NCK adaptor protein 1 |
- Downstream signal transduction
- Generation of second messenger molecules
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- Nephrin family interactions
- DCC mediated attractive signaling
- DCC mediated attractive signaling
- Activation of RAC1
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- 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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NECTIN1 |
nectin cell adhesion molecule 1 |
- Adherens junctions interactions
- Nectin/Necl trans heterodimerization
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
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NOTCH1 |
notch receptor 1 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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OSTF1 |
osteoclast stimulating factor 1 |
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PDGFRA |
platelet derived growth factor receptor alpha |
- PIP3 activates AKT signaling
- Downstream signal transduction
- Signaling by PDGF
- Constitutive Signaling by Aberrant PI3K in Cancer
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Imatinib-resistant PDGFR mutants
- Sunitinib-resistant PDGFR mutants
- Regorafenib-resistant PDGFR mutants
- Sorafenib-resistant PDGFR mutants
- PDGFR mutants bind TKIs
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- Becaplermin
- Imatinib
- Sunitinib
- XL820
- Olaratumab
- Pazopanib
- Midostaurin
- Regorafenib
- Ponatinib
- Lenvatinib
- Nintedanib
- Foreskin keratinocyte (neonatal)
- Fostamatinib
- Erdafitinib
- Amuvatinib
- Ripretinib
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PDGFRB |
platelet derived growth factor receptor beta |
- PIP3 activates AKT signaling
- Downstream signal transduction
- Signaling by PDGF
- Constitutive Signaling by Aberrant PI3K in Cancer
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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- Becaplermin
- Sorafenib
- Imatinib
- Dasatinib
- Sunitinib
- XL999
- XL820
- Pazopanib
- Midostaurin
- Regorafenib
- Nintedanib
- Polaprezinc
- Trapidil
- Foreskin fibroblast (neonatal)
- Fostamatinib
- Erdafitinib
- Pexidartinib
- Ripretinib
- Pralsetinib
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
- PI3K Cascade
- IRS-mediated signalling
- GPVI-mediated activation cascade
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- PI3K events in ERBB4 signaling
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Synthesis of PIPs at the plasma membrane
- GAB1 signalosome
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- PI3K events in ERBB2 signaling
- PI3K/AKT activation
- Downstream TCR signaling
- Role of phospholipids in phagocytosis
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Costimulation by the CD28 family
- CD28 dependent PI3K/Akt signaling
- G alpha (q) signalling events
- GP1b-IX-V activation signalling
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Constitutive Signaling by EGFRvIII
- PI-3K cascade:FGFR1
- PI-3K cascade:FGFR2
- PI-3K cascade:FGFR3
- PI-3K cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- RAF/MAP kinase cascade
- Interleukin-4 and Interleukin-13 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- MET activates PI3K/AKT signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- RET signaling
- Extra-nuclear estrogen signaling
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Activated NTRK2 signals through PI3K
- Interleukin receptor SHC signaling
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Activated NTRK3 signals through PI3K
- FLT3 Signaling
- FLT3 Signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- 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
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
- Signaling by FLT3 ITD and TKD mutants
- 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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- Isoprenaline
- SF1126
- Enzastaurin
- Wortmannin
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PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
- PI3K Cascade
- IRS-mediated signalling
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Synthesis of PIPs at the plasma membrane
- Downstream signal transduction
- Rho GTPase cycle
- PI3K/AKT activation
- Downstream TCR signaling
- Role of phospholipids in phagocytosis
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Costimulation by the CD28 family
- CD28 dependent PI3K/Akt signaling
- G alpha (q) signalling events
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- RET signaling
- Extra-nuclear estrogen signaling
- Interleukin receptor SHC signaling
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- 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
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PLCG1 |
phospholipase C gamma 1 |
- ISG15 antiviral mechanism
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- PLCG1 events in ERBB2 signaling
- DAG and IP3 signaling
- PLC-gamma1 signalling
- Synthesis of IP3 and IP4 in the cytosol
- Downstream signal transduction
- Generation of second messenger molecules
- Role of phospholipids in phagocytosis
- Role of phospholipids in phagocytosis
- PECAM1 interactions
- EGFR interacts with phospholipase C-gamma
- DAP12 signaling
- FCERI mediated MAPK activation
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- Role of second messengers in netrin-1 signaling
- VEGFR2 mediated cell proliferation
- VEGFR2 mediated cell proliferation
- Constitutive Signaling by EGFRvIII
- Phospholipase C-mediated cascade: FGFR1
- Phospholipase C-mediated cascade; FGFR2
- Phospholipase C-mediated cascade; FGFR3
- Phospholipase C-mediated cascade; FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Signaling by FGFR3 point mutants in cancer
- RET signaling
- Activated NTRK2 signals through PLCG1
- Activated NTRK2 signals through PLCG1
- Erythropoietin activates Phospholipase C gamma (PLCG)
- Activated NTRK3 signals through PLCG1
- Activated NTRK3 signals through PLCG1
- FCGR3A-mediated IL10 synthesis
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
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PRKCA |
protein kinase C alpha |
- Calmodulin induced events
- Disinhibition of SNARE formation
- SHC1 events in ERBB2 signaling
- Signaling by SCF-KIT
- Regulation of KIT signaling
- EGFR Transactivation by Gastrin
- Inactivation, recovery and regulation of the phototransduction cascade
- Syndecan interactions
- Acetylcholine regulates insulin secretion
- Ca2+ pathway
- Trafficking of GluR2-containing AMPA receptors
- G alpha (z) signalling events
- Depolymerisation of the Nuclear Lamina
- HuR (ELAVL1) binds and stabilizes mRNA
- WNT5A-dependent internalization of FZD4
- VEGFR2 mediated cell proliferation
- RHO GTPases Activate NADPH Oxidases
- Response to elevated platelet cytosolic Ca2+
- RET signaling
- ROBO receptors bind AKAP5
- ROBO receptors bind AKAP5
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- Phosphatidyl serine
- Vitamin E
- Tamoxifen
- Ingenol mebutate
- Aprinocarsen
- Midostaurin
- Perifosine
- Ellagic acid
- Bryostatin 1
- alpha-Tocopherol succinate
- D-alpha-Tocopherol acetate
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PRKCQ |
protein kinase C theta |
- Apoptotic cleavage of cellular proteins
- Effects of PIP2 hydrolysis
- Downstream TCR signaling
- Inactivation, recovery and regulation of the phototransduction cascade
- FCERI mediated NF-kB activation
- FCERI mediated NF-kB activation
- Netrin-1 signaling
- G alpha (z) signalling events
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RAS processing
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- Tamoxifen
- Staurosporine
- Phosphonothreonine
- Dexfosfoserine
- Fostamatinib
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PTK2B |
protein tyrosine kinase 2 beta |
- Signal regulatory protein family interactions
- VEGFA-VEGFR2 Pathway
- Interleukin-2 signaling
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- Leflunomide
- Genistein
- 4-{[4-{[(1R,2R)-2-(dimethylamino)cyclopentyl]amino}-5-(trifluoromethyl)pyrimidin-2-yl]amino}-N-methylbenzenesulfonamide
- Baricitinib
- Fostamatinib
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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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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
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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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RET |
ret proto-oncogene |
- RAF/MAP kinase cascade
- RET signaling
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- Sorafenib
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Vandetanib
- Cabozantinib
- Regorafenib
- Ponatinib
- Lenvatinib
- Fostamatinib
- Amuvatinib
- Selpercatinib
- Pralsetinib
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- Hirschsprung disease (HD)
- Renal agenesis and Renal adysplasia
- Thyroid cancer
- Congenital central hypoventilation syndrome (CCHS)
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SCN5A |
sodium voltage-gated channel alpha subunit 5 |
- Interaction between L1 and Ankyrins
- Phase 0 - rapid depolarisation
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- Indecainide
- Ranolazine
- Phenytoin
- Topiramate
- Disopyramide
- Lidocaine
- Valproic acid
- Mexiletine
- Hexylcaine
- Cinchocaine
- Mephenytoin
- Lamotrigine
- Carbamazepine
- Moricizine
- Riluzole
- Prilocaine
- Ethotoin
- Oxcarbazepine
- Benzonatate
- Cocaine
- Quinidine
- Zonisamide
- Procainamide
- Tocainide
- Promethazine
- Propafenone
- Flecainide
- Encainide
- Fosphenytoin
- Quinidine barbiturate
- Ajmaline
- Aprindine
- Dronedarone
- Brivaracetam
- Vernakalant
- Tetracaine
- Amylocaine
- Propoxycaine
- Pramocaine
- Pentoxyverine
- Isavuconazole
- Dichlorobenzyl alcohol
- Bioallethrin
- Fish oil
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- Familial idiopathic ventricular fibrillation
- Sick sinus syndrome (SSS); Sinus node dysfunction
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Brugada syndrome (BRS)
- Atrial fibrillation
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