ABCC2 |
ATP binding cassette subfamily C member 2 |
- Heme degradation
- ABC-family proteins mediated transport
- Defective ABCC2 causes Dubin-Johnson syndrome
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- Hyperbilirubinemia; Crigler-Najjar syndrome, type I (CN1); Crigler-Najjar syndrome, type II (CN2); Gilbert Syndrome; Dubin-Johnson syndrome (DJS)
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ABCC4 |
ATP binding cassette subfamily C member 4 |
- Platelet degranulation
- ABC-family proteins mediated transport
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ADRB2 |
adrenoceptor beta 2 |
- Adrenoceptors
- G alpha (s) signalling events
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- ADORA2B mediated anti-inflammatory cytokines production
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- Spermine
- Amphetamine
- Betaxolol
- Bethanidine
- Isoetarine
- Cabergoline
- Metoprolol
- Amitriptyline
- Olanzapine
- Atenolol
- Norepinephrine
- Mirtazapine
- Timolol
- Phenylpropanolamine
- Dipivefrin
- Sotalol
- Carteolol
- Nortriptyline
- Propranolol
- Labetalol
- Bisoprolol
- Epinephrine
- Trimipramine
- Orciprenaline
- Dobutamine
- Pseudoephedrine
- Alprenolol
- Ritodrine
- Terbutaline
- Bitolterol
- Phenoxybenzamine
- Salmeterol
- Pindolol
- Formoterol
- Salbutamol
- Isoprenaline
- Arbutamine
- Carvedilol
- Desipramine
- Propafenone
- Acebutolol
- Nadolol
- Levobunolol
- Metipranolol
- Arformoterol
- Fenoterol
- Pirbuterol
- Bevantolol
- Penbutolol
- Ephedra
- Mephentermine
- Procaterol
- Clenbuterol
- Bambuterol
- Oxprenolol
- Putrescine
- Spermidine
- Celiprolol
- Nebivolol
- Indacaterol
- NCX 950
- Asenapine
- Droxidopa
- Bufuralol
- (2S)-1-(9H-Carbazol-4-yloxy)-3-(isopropylamino)propan-2-ol
- Bopindolol
- Bupranolol
- Befunolol
- Olodaterol
- Vilanterol
- Tulobuterol
- Levosalbutamol
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AKAP10 |
A-kinase anchoring protein 10 |
- Factors involved in megakaryocyte development and platelet production
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AKT1 |
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- mTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- CTLA4 inhibitory signaling
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
|
- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
|
- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
|
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
- ROS and RNS production in phagocytes
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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- Distal renal tubular acidosis (RTA type 1)
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
- ROS and RNS production in phagocytes
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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AXIN2 |
axin 2 |
- TCF dependent signaling in response to WNT
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Degradation of AXIN
- Ub-specific processing proteases
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- Tooth agenesis; Hypodontia
- Oligodontia-colorectal cancer syndrome
|
BCL10 |
BCL10 immune signaling adaptor |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- FCERI mediated NF-kB activation
- CLEC7A (Dectin-1) signaling
- E3 ubiquitin ligases ubiquitinate target proteins
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BCL2A1 |
BCL2 related protein A1 |
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CABP1 |
calcium binding protein 1 |
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CD300A |
CD300a molecule |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Neutrophil degranulation
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CFTR |
CF transmembrane conductance regulator |
- ABC-family proteins mediated transport
- RHO GTPases regulate CFTR trafficking
- Defective CFTR causes cystic fibrosis
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Aggrephagy
- Aggrephagy
|
- ATP
- Bumetanide
- Glyburide
- Ibuprofen
- Colforsin
- Phosphoaminophosphonic Acid-Adenylate Ester
- Dexfosfoserine
- Crofelemer
- Lonidamine
- Ivacaftor
- Dexibuprofen
- Lumacaftor
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- Cystic fibrosis (CF)
- Hereditary pancreatitis; Hereditary chronic pancreatitis
- Congenital bilateral absence of vas deferens
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CLCN3 |
chloride voltage-gated channel 3 |
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CNGA2 |
cyclic nucleotide gated channel subunit alpha 2 |
- VxPx cargo-targeting to cilium
- VxPx cargo-targeting to cilium
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COG1 |
component of oligomeric golgi complex 1 |
- COPI-mediated anterograde transport
- Intra-Golgi traffic
- Retrograde transport at the Trans-Golgi-Network
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- Congenital disorders of glycosylation (CDG) type II
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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
- Misspliced GSK3beta mutants stabilize beta-catenin
- 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
|
EGFR |
epidermal growth factor receptor |
- Signaling by ERBB2
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Signaling by ERBB4
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- EGFR interacts with phospholipase C-gamma
- EGFR Transactivation by Gastrin
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signal transduction by L1
- Constitutive Signaling by EGFRvIII
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- PTK6 promotes HIF1A stabilization
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Extra-nuclear estrogen signaling
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- HCMV Early Events
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
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- Cetuximab
- Trastuzumab
- Lidocaine
- Gefitinib
- Erlotinib
- Lapatinib
- Panitumumab
- Alvocidib
- IGN311
- Matuzumab
- Vandetanib
- Rindopepimut
- Canertinib
- Pelitinib
- Varlitinib
- S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE
- N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE
- Afatinib
- Osimertinib
- Necitumumab
- Depatuxizumab mafodotin
- Icotinib
- Neratinib
- Zalutumumab
- Brigatinib
- Olmutinib
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- Choriocarcinoma
- Gastric cancer
- Bladder cancer
- Oral cancer
- Glioma
- Laryngeal cancer
- Cervical cancer
- Esophageal cancer
|
EZR |
ezrin |
- Netrin-1 signaling
- Recycling pathway of L1
- Recycling pathway of L1
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GC |
GC vitamin D binding protein |
- Vitamin D (calciferol) metabolism
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GFI1 |
growth factor independent 1 transcriptional repressor |
- Transcriptional regulation of granulopoiesis
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GNA11 |
G protein subunit alpha 11 |
- Acetylcholine regulates insulin secretion
- Acetylcholine regulates insulin secretion
- G alpha (q) signalling events
- G alpha (q) signalling events
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
- Thromboxane signalling through TP receptor
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Thrombin signalling through proteinase activated receptors (PARs)
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GNAQ |
G protein subunit alpha q |
- Acetylcholine regulates insulin secretion
- Acetylcholine regulates insulin secretion
- G alpha (q) signalling events
- G alpha (q) signalling events
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
- Thromboxane signalling through TP receptor
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Thrombin signalling through proteinase activated receptors (PARs)
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GRK6 |
G protein-coupled receptor kinase 6 |
- G alpha (s) signalling events
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KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
- Potassium transport channels
|
- Bethanidine
- Glimepiride
- Minoxidil
- Acetohexamide
- Tolbutamide
- Glycodiazine
- Yohimbine
- Agmatine
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LHCGR |
luteinizing hormone/choriogonadotropin receptor |
- Hormone ligand-binding receptors
- G alpha (s) signalling events
- ADORA2B mediated anti-inflammatory cytokines production
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- Goserelin
- Menotropins
- Lutropin alfa
- Cetrorelix
- Choriogonadotropin alfa
- Buserelin
- Chorionic Gonadotropin (Human)
|
- 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
- Premature ovarian failure
- Precocious puberty, including: Central precocious puberty (CEPREPU); Familial male precocious puberty (FMPP)
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LPAR2 |
lysophosphatidic acid receptor 2 |
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosphingolipid and LPA receptors
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MSN |
moesin |
- Recycling pathway of L1
- Recycling pathway of L1
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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NF2 |
neurofibromin 2 |
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases activate PAKs
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- Malignant pleural mesothelioma
- 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)
|
NOS2 |
nitric oxide synthase 2 |
- ROS and RNS production in phagocytes
- Nitric oxide stimulates guanylate cyclase
- Interleukin-4 and Interleukin-13 signaling
- Peroxisomal protein import
- Peroxisomal protein import
- Inhibition of nitric oxide production
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- L-Arginine
- L-Citrulline
- Miconazole
- Dexamethasone
- N,N-dimethylarginine
- 4r-Fluoro-N6-Ethanimidoyl-L-Lysine
- 3-Bromo-7-Nitroindazole
- N-(3-(Aminomethyl)Benzyl)Acetamidine
- 7-Nitroindazole
- S-Ethylisothiourea
- Thiocoumarin
- N-Omega-Propyl-L-Arginine
- 6-Nitroindazole
- N-Omega-Hydroxy-L-Arginine
- Imidazole
- N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-Thiophecarboxamidine
- L-Thiocitrulline
- L-erythro-7,8-dihydrobiopterin
- 5-Nitroindazole
- KD7040
- ACCLAIM
- Pimagedine
- 5-(4'-AMINO-1'-ETHYL-5',8'-DIFLUORO-1'H-SPIRO[PIPERIDINE-4,2'-QUINAZOLINE]-1-YLCARBONYL)PICOLINONITRILE
- N-[2-(1,3-BENZODIOXOL-5-YL)ETHYL]-1-[2-(1H-IMIDAZOL-1-YL)-6-METHYLPYRIMIDIN-4-YL]-D-PROLINAMIDE
- 4-({4-[(4-methoxypyridin-2-yl)amino]piperidin-1-yl}carbonyl)benzonitrile
- (2S)-2-methyl-2,3-dihydrothieno[2,3-f][1,4]oxazepin-5-amine
- (3R)-3-[(1,2,3,4-tetrahydroisoquinolin-7-yloxy)methyl]-2,3-dihydrothieno[2,3-f][1,4]oxazepin-5-amine
- 4-(1,3-BENZODIOXOL-5-YLOXY)-2-[4-(1H-IMIDAZOL-1-YL)PHENOXY]PYRIMIDINE
- (3S)-1-(1,3-BENZODIOXOL-5-YLMETHYL)-3-[4-(1H-IMIDAZOL-1-YL)PHENOXY]PIPERIDINE
- 4-(1,3-BENZODIOXOL-5-YLOXY)-2-[4-(1H-IMIDAZOL-1-YL)PHENOXY]-6-METHYLPYRIMIDINE
- ETHYL 4-[(4-CHLOROPYRIDIN-2-YL)AMINO]PIPERIDINE-1-CARBOXYLATE
- N-[2-(4-AMINO-5,8-DIFLUORO-1,2-DIHYDROQUINAZOLIN-2-YL)ETHYL]-3-FURAMIDE
- ETHYL 4-[(4-METHYLPYRIDIN-2-YL)AMINO]PIPERIDINE-1-CARBOXYLATE
- N-[2-(6-AMINO-4-METHYLPYRIDIN-2-YL)ETHYL]-4-CYANOBENZAMIDE
- 1-(6-CYANO-3-PYRIDYLCARBONYL)-5',8'-DIFLUOROSPIRO[PIPERIDINE-4,2'(1'H)-QUINAZOLINE]-4'-AMINE
- 4-(1H-IMIDAZOL-1-YL)PHENOL
- 1-[4-(AMINOMETHYL)BENZOYL]-5'-FLUORO-1'H-SPIRO[PIPERIDINE-4,2'-QUINAZOLIN]-4'-AMINE
- Triflusal
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OPRK1 |
opioid receptor kappa 1 |
- Peptide ligand-binding receptors
- G alpha (i) signalling events
- MECP2 regulates neuronal receptors and channels
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- Tramadol
- Morphine
- Codeine
- Amitriptyline
- Hydromorphone
- Mirtazapine
- Progesterone
- Pethidine
- Oxycodone
- Dextromethorphan
- Butorphanol
- Dextropropoxyphene
- Pentazocine
- Naltrexone
- Sufentanil
- Fentanyl
- Menthol
- Loperamide
- Nalbuphine
- Levorphanol
- Remifentanil
- Buprenorphine
- Naloxone
- Dezocine
- Ketamine
- 3-Methylthiofentanyl
- Heroin
- Etorphine
- Carfentanil
- Diprenorphine
- Dihydromorphine
- 3-Methylfentanyl
- V1003
- Asimadoline
- CR665
- ADL 10-0101
- Mianserin
- Tapentadol
- Nalmefene
- Alvimopan
- Ketobemidone
- Methylnaltrexone
- Eluxadoline
- Propoxyphene napsylate
- Naldemedine
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|
P2RY1 |
purinergic receptor P2Y1 |
- G alpha (q) signalling events
- P2Y receptors
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
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PAG1 |
phosphoprotein membrane anchor with glycosphingolipid microdomains 1 |
- GAB1 signalosome
- Phosphorylation of CD3 and TCR zeta chains
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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
|
- Becaplermin
- Imatinib
- Sunitinib
- XL820
- Olaratumab
- Pazopanib
- Midostaurin
- Regorafenib
- Ponatinib
- Amuvatinib
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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
|
- Becaplermin
- Sorafenib
- Imatinib
- Dasatinib
- Sunitinib
- XL999
- XL820
- Pazopanib
- Midostaurin
- Regorafenib
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PDZK1 |
PDZ domain containing 1 |
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PHLPP1 |
PH domain and leucine rich repeat protein phosphatase 1 |
- Negative regulation of the PI3K/AKT network
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PLCB1 |
phospholipase C beta 1 |
- PLC beta mediated events
- PLC beta mediated events
- Synthesis of IP3 and IP4 in the cytosol
- Acetylcholine regulates insulin secretion
- Acetylcholine regulates insulin secretion
- Ca2+ pathway
- G alpha (q) signalling events
- G alpha (q) signalling events
- G beta:gamma signalling through PLC beta
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Presynaptic function of Kainate receptors
|
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- Early infantile epileptic encephalopathy; Ohtahara syndrome
|
PLCB2 |
phospholipase C beta 2 |
- PLC beta mediated events
- PLC beta mediated events
- Synthesis of IP3 and IP4 in the cytosol
- Acetylcholine regulates insulin secretion
- Acetylcholine regulates insulin secretion
- Ca2+ pathway
- G alpha (q) signalling events
- G alpha (q) signalling events
- G beta:gamma signalling through PLC beta
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
- Presynaptic function of Kainate receptors
|
|
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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
|
- Phosphatidyl serine
- Vitamin E
- Tamoxifen
- Ingenol Mebutate
- Midostaurin
- Ellagic Acid
|
|
PTEN |
phosphatase and tensin homolog |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP3 and IP4 in the cytosol
- Negative regulation of the PI3K/AKT network
- Downstream TCR signaling
- TP53 Regulates Metabolic Genes
- PTEN Loss of Function in Cancer
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Regulation of PTEN mRNA translation
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Transcriptional Regulation by MECP2
|
|
- Vulvar cancer
- Prostate cancer
- Endometrial Cancer
- Glioma
- Small cell lung cancer
- Breast cancer
- Hepatocellular carcinoma
- Malignant melanoma
|
PTH1R |
parathyroid hormone 1 receptor |
- Class B/2 (Secretin family receptors)
- G alpha (s) signalling events
- ADORA2B mediated anti-inflammatory cytokines production
|
- Abaloparatide
- Parathyroid hormone
- Teriparatide
|
- Primary failure of tooth eruption
- Blomstrand syndrome; Blomstrand chondrodysplasia
- Eiken dysplasia
- Metaphyseal dysplasias, including: Metaphyseal dysplasia, Schmid type; Metaphyseal dysplasia, McKusik type; Metaphyseal dysplasia, Jansen type; Shwachman-Bodian-Diamond syndrome (SBDS); Metaphyseal anadysplasia (MAD)
|
RDX |
radixin |
- Recycling pathway of L1
- Recycling pathway of L1
|
- 1D-myo-inositol 1,4,5-trisphosphate
|
|
RLBP1 |
retinaldehyde binding protein 1 |
- The retinoid cycle in cones (daylight vision)
- The retinoid cycle in cones (daylight vision)
- Retinoid cycle disease events
- The canonical retinoid cycle in rods (twilight vision)
|
|
- Newfoundland rod-cone dystrophy (NFRCD)
- Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
|
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
- Interaction between L1 and Ankyrins
- Phase 0 - rapid depolarisation
|
- Lidocaine
- Valproic Acid
- Diclofenac
- Propofol
- Zonisamide
- Flecainide
- Brivaracetam
- Chloroxylenol
- Parachlorophenol
|
- Hyperkalemic periodic paralysis (HyperPP)
- Potassium-aggravated myotonias (PAMs), including: Myotonia fluctuans; Myotonia permanens; Acetazolamide responsive myotonia
- Hypokalemic periodic paralysis (HypoPP)
- Paramyotonia congenita (PMC)
- Congenital myasthenic syndrome
|
SKP2 |
S-phase kinase associated protein 2 |
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- SCF(Skp2)-mediated degradation of p27/p21
- Ub-specific processing proteases
- Orc1 removal from chromatin
- Cyclin D associated events in G1
- Regulation of RUNX2 expression and activity
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
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SLC22A11 |
solute carrier family 22 member 11 |
|
- Cefotaxime
- Probenecid
- Ceftriaxone
- Lesinurad
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SLC22A4 |
solute carrier family 22 member 4 |
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SLC22A5 |
solute carrier family 22 member 5 |
- Carnitine metabolism
- Organic cation transport
- Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
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- Crohn's disease
- Disorders of fatty-acid oxidation, including: Medium-chain (MC) acyl-CoA dehydrogenase (AD) deficiency (MCADD); Short-chain AD deficiency (SCADD) ; Short-branched-chain AD deficiency (SBCADD) ; Very long-chain AD deficiency (VLCADD) ; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) ; Trifunctional protein deficiency (TFP); Carnitine palmitoyltransferase deficiency (CPT); Carnitine-acylcarnitine translocase deficiency (CACT); Systemic primary carnitine deficiency (CDSP)
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SLC22A9 |
solute carrier family 22 member 9 |
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SLC26A3 |
solute carrier family 26 member 3 |
- Multifunctional anion exchangers
- Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
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SLC34A1 |
solute carrier family 34 member 1 |
- Type II Na+/Pi cotransporters
- Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
- Surfactant metabolism
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- Nephrolithiasis/osteoporosis, hypophosphatemic
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SLC4A7 |
solute carrier family 4 member 7 |
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SLC4A8 |
solute carrier family 4 member 8 |
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SLC9A3 |
solute carrier family 9 member A3 |
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SLCO1A2 |
solute carrier organic anion transporter family member 1A2 |
- Recycling of bile acids and salts
- Transport of organic anions
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SLCO3A1 |
solute carrier organic anion transporter family member 3A1 |
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ST6GALNAC2 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 |
- Sialic acid metabolism
- Termination of O-glycan biosynthesis
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TBC1D10A |
TBC1 domain family member 10A |
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TRPC4 |
transient receptor potential cation channel subfamily C member 4 |
- TRP channels
- Role of second messengers in netrin-1 signaling
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TRPC5 |
transient receptor potential cation channel subfamily C member 5 |
- TRP channels
- Role of second messengers in netrin-1 signaling
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YAP1 |
Yes1 associated transcriptional regulator |
- Nuclear signaling by ERBB4
- Signaling by Hippo
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- RUNX3 regulates YAP1-mediated transcription
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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YES1 |
YES proto-oncogene 1, Src family tyrosine kinase |
- Signaling by ERBB2
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- FCGR activation
- PECAM1 interactions
- EPH-Ephrin signaling
- CD28 co-stimulation
- CTLA4 inhibitory signaling
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- EPH-ephrin mediated repulsion of cells
- RUNX2 regulates osteoblast differentiation
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
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ZNF468 |
zinc finger protein 468 |
- Generic Transcription Pathway
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