Novel |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Regulation of KIT signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Dasatinib-resistant KIT mutants
- Imatinib-resistant KIT mutants
- KIT mutants bind TKIs
- Masitinib-resistant KIT mutants
- Nilotinib-resistant KIT mutants
- Regorafenib-resistant KIT mutants
- Signaling by kinase domain mutants of KIT
- Sunitinib-resistant KIT mutants
- Signaling by juxtamembrane domain KIT mutants
- Sorafenib-resistant KIT mutants
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by extracellular domain mutants of KIT
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- Sorafenib
- Imatinib
- Dasatinib
- Sunitinib
- Phosphonotyrosine
- Nilotinib
- XL820
- OSI-930
- ABT-869
- Pazopanib
- Midostaurin
- Regorafenib
- Ponatinib
- Lenvatinib
- Ancestim
- Fostamatinib
- Erdafitinib
- Amuvatinib
- Pexidartinib
- Ripretinib
- Avapritinib
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- Piebaldism
- Acute myeloid leukemia (AML)
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Novel |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
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- Ergocalciferol
- Enflurane
- Ranolazine
- Phenytoin
- Isradipine
- Topiramate
- Nimodipine
- Nisoldipine
- Spironolactone
- Cinnarizine
- Magnesium sulfate
- Levomenthol
- Ethanol
- Felodipine
- Nitrendipine
- Miconazole
- Nifedipine
- Amiodarone
- Mibefradil
- Dronedarone
- Clevidipine
- Nilvadipine
- Trimebutine
- Pinaverium
- Aranidipine
- Benidipine
- Cilnidipine
- Lacidipine
- Manidipine
- Butamben
- Bioallethrin
- Bioallethrin
- Fish oil
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- Hypokalemic periodic paralysis (HypoPP)
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Novel |
ALB |
albumin |
- Platelet degranulation
- Recycling of bile acids and salts
- Heme biosynthesis
- Heme degradation
- Scavenging of heme from plasma
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Transport of organic anions
- Post-translational protein phosphorylation
- HDL remodeling
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- Amsacrine
- Cefotaxime
- Pyridostigmine
- Phenol
- Norelgestromin
- Aniline
- Guaiacol
- Artenimol
- Silver
- Patent Blue
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Novel |
CHIC2 |
cysteine rich hydrophobic domain 2 |
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Novel |
GSTA2 |
glutathione S-transferase alpha 2 |
- Glutathione conjugation
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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- Glutathione
- Chloroquine
- Glutathione disulfide
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Novel |
SHOX2 |
short stature homeobox 2 |
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Novel |
SRP72 |
signal recognition particle 72 |
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
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Novel |
UTP3 |
UTP3 small subunit processome component |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
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CTNNB1 |
catenin beta 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- 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
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
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ATR |
ATR serine/threonine kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
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COL18A1 |
collagen type XVIII alpha 1 chain |
- Collagen degradation
- Activation of Matrix Metalloproteinases
- Collagen biosynthesis and modifying enzymes
- Assembly of collagen fibrils and other multimeric structures
- Integrin cell surface interactions
- Laminin interactions
- Collagen chain trimerization
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- Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
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DNM2 |
dynamin 2 |
- Toll Like Receptor 4 (TLR4) Cascade
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- NOSTRIN mediated eNOS trafficking
- MHC class II antigen presentation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
- Recycling pathway of L1
- Clathrin-mediated endocytosis
- NGF-stimulated transcription
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- Centronuclear myopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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ITGB3 |
integrin subunit beta 3 |
- Platelet degranulation
- Elastic fibre formation
- PECAM1 interactions
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Integrin cell surface interactions
- Syndecan interactions
- Syndecan interactions
- ECM proteoglycans
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- MAP2K and MAPK activation
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
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- Abciximab
- Eptifibatide
- Antithymocyte immunoglobulin (rabbit)
- Levothyroxine
- Tirofiban
- Resveratrol
- Lefradafiban
- LM-609
- Fradafiban
- Ferric maltol
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- Glanzmann thrombasthenia
- Allograft rejection
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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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STAT1 |
signal transducer and activator of transcription 1 |
- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- 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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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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CAV1 |
caveolin 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Extra-nuclear estrogen signaling
- FOXO-mediated transcription of cell cycle genes
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- Congenital generalized lipodystrophy (CGL)
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CBL |
Cbl proto-oncogene |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Negative regulation of FLT3
- FLT3 signaling by CBL 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)
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FLT4 |
fms related receptor tyrosine kinase 4 |
- VEGF binds to VEGFR leading to receptor dimerization
- NOTCH4 Intracellular Domain Regulates Transcription
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- Sorafenib
- Sunitinib
- Vatalanib
- TG-100801
- Denibulin
- ABT-869
- IMC-1C11
- Pazopanib
- Axitinib
- Regorafenib
- Lenvatinib
- Nintedanib
- Fostamatinib
- Selpercatinib
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- Lymphedemas, including: Lymphedema, hereditary I; Lymphedema-distichiasis syndrome (LD); Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)
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RASA1 |
RAS p21 protein activator 1 |
- Downstream signal transduction
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- VEGFR2 mediated cell proliferation
- Regulation of RAS by GAPs
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
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- RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
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SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
- Regulation of RAS by GAPs
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- Non-syndromic autosomal dominant mental retardation
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