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MSH6 |
mutS homolog 6 |
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Defective Mismatch Repair Associated With MSH2
- Defective Mismatch Repair Associated With MSH6
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- Colorectal cancer
- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
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PDGFB |
platelet derived growth factor subunit B |
- Platelet degranulation
- PIP3 activates AKT signaling
- Downstream signal transduction
- Signaling by PDGF
- Constitutive Signaling by Aberrant PI3K in Cancer
- Non-integrin membrane-ECM interactions
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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- Malignant pleural mesothelioma
- Glioma
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STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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AGTR1 |
angiotensin II receptor type 1 |
- Peptide ligand-binding receptors
- G alpha (q) signalling events
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
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- Valsartan
- Olmesartan
- Losartan
- Candesartan cilexetil
- Eprosartan
- Telmisartan
- Irbesartan
- Forasartan
- Saprisartan
- Tasosartan
- CYT006-AngQb
- Azilsartan medoxomil
- Fimasartan
- Angiotensin II
- Candesartan
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ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
- RAF activation
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- 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
- Signaling by MRAS-complex 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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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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KRT17 |
keratin 17 |
- Keratinization
- Formation of the cornified envelope
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- Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
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MAP2K1 |
mitogen-activated protein kinase kinase 1 |
- MAPK3 (ERK1) activation
- Frs2-mediated activation
- Signal transduction by L1
- Uptake and function of anthrax toxins
- RAF activation
- MAP2K and MAPK activation
- Negative feedback regulation of MAPK pathway
- MAP3K8 (TPL2)-dependent MAPK1/3 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 MAP2K mutants
- Signaling by RAF1 mutants
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- K-252a
- 5-Bromo-N-[(2S)-2,3-dihydroxypropoxy]-3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]benzamide
- Cobimetinib
- Bosutinib
- (5S)-4,5-difluoro-6-[(2-fluoro-4-iodophenyl)imino]-N-(2-hydroxyethoxy)cyclohexa-1,3-diene-1-carboxamide
- 2-[(2-chloro-4-iodophenyl)amino]-N-{[(2R)-2,3-dihydroxypropyl]oxy}-3,4-difluorobenzamide
- PD-0325901
- N-(5-{3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]phenyl}-1,3,4-oxadiazol-2-yl)ethane-1,2-diamine
- 2-[(4-ETHYNYL-2-FLUOROPHENYL)AMINO]-3,4-DIFLUORO-N-(2-HYDROXYETHOXY)BENZAMIDE
- Trametinib
- Selumetinib
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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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MLH3 |
mutL homolog 3 |
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- Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome
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MUTYH |
mutY DNA glycosylase |
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- Familial adenomatous polyposis
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NF1 |
neurofibromin 1 |
- Regulation of RAS by GAPs
- RAS signaling downstream of NF1 loss-of-function variants
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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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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
- 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
- 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
- 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
- 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
- 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 ITD and TKD mutants
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- ATP
- Caffeine
- XL765
- Wortmannin
- Pilaralisib
- Alpelisib
- Copanlisib
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PLCE1 |
phospholipase C epsilon 1 |
- Synthesis of IP3 and IP4 in the cytosol
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- Nephrotic syndrome and focal segmental glomerulosclerosis
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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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SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
- RAF activation
- Signaling by MRAS-complex 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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SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
- SOS-mediated signalling
- SOS-mediated signalling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Signalling to RAS
- Signalling to RAS
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- NRAGE signals death through JNK
- Rho GTPase cycle
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Role of LAT2/NTAL/LAB on calcium mobilization
- Role of LAT2/NTAL/LAB on calcium mobilization
- FCERI mediated MAPK activation
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- NCAM signaling for neurite out-growth
- G alpha (12/13) signalling events
- Activation of RAC1
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- RAF/MAP kinase cascade
- Signal attenuation
- Insulin receptor signalling cascade
- Insulin receptor signalling cascade
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- RET signaling
- Interleukin-15 signaling
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- Interleukin receptor SHC signaling
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD 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 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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- 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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TP73 |
tumor protein p73 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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- Zinc
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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ABR |
ABR activator of RhoGEF and GTPase |
- NRAGE signals death through JNK
- Rho GTPase cycle
- G alpha (12/13) signalling events
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ACTG1 |
actin gamma 1 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- 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
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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AFDN |
afadin, adherens junction formation factor |
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- (5R)-2-sulfanyl-5-[4-(trifluoromethyl)benzyl]-1,3-thiazol-4(5H)-one
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