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KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
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- Enflurane
- Promethazine
- Miconazole
- Azimilide
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
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KCNE4 |
potassium voltage-gated channel subfamily E regulatory subunit 4 |
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
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- Enflurane
- Promethazine
- Miconazole
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KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
- Voltage gated Potassium channels
- Interaction between L1 and Ankyrins
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- Enflurane
- Amitriptyline
- Meclofenamic acid
- Promethazine
- Miconazole
- Ezogabine
- ICA-105665
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- Early infantile epileptic encephalopathy; Ohtahara syndrome
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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
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Alveolar Cells
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- Sorafenib
- Imatinib
- Dasatinib
- Sunitinib
- Phosphonotyrosine
- Nilotinib
- XL820
- OSI-930
- Linifanib
- Pazopanib
- Midostaurin
- Regorafenib
- Ponatinib
- Lenvatinib
- Ancestim
- Tivozanib
- Fostamatinib
- Erdafitinib
- Amuvatinib
- Pexidartinib
- Ripretinib
- Avapritinib
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- Acute myeloid leukemia (AML)
- Piebaldism
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KLF5 |
KLF transcription factor 5 |
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of granulopoiesis
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KRT18 |
keratin 18 |
- Keratinization
- Formation of the cornified envelope
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Alveolar Cells
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- Nef and signal transduction
- Nef Mediated CD4 Down-regulation
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- PECAM1 interactions
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- DAP12 signaling
- Co-stimulation by CD28
- CD28 dependent PI3K/Akt signaling
- CD28 dependent Vav1 pathway
- Co-inhibition by CTLA4
- Co-inhibition by PD-1
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- RHOH GTPase cycle
- Interleukin-2 signaling
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- FLT3 signaling through SRC family kinases
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- Dasatinib
- AP-22408
- Staurosporine
- 1-Tert-Butyl-3-(4-Chloro-Phenyl)-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- {4-[(2S)-2-Acetamido-3-({(1S)-1-[3-carbamoyl-4-(cyclohexylmethoxy)phenyl]ethyl}amino)-3-oxopropyl]-2-phosphonophenoxy}acetic acid
- Phosphoaminophosphonic Acid-Adenylate Ester
- 3-(2-AMINOQUINAZOLIN-6-YL)-4-METHYL-N-[3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 2,3-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-B]PYRIDIN-4-AMINE
- 5,6-DIPHENYL-N-(2-PIPERAZIN-1-YLETHYL)FURO[2,3-D]PYRIMIDIN-4-AMINE
- N-(2-chlorophenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2,6-dimethylphenyl)-5-phenylimidazo[1,5-a]pyrazin-8-amine
- N-(2-chloro-6-methylphenyl)-8-[(3S)-3-methylpiperazin-1-yl]imidazo[1,5-a]quinoxalin-4-amine
- Ponatinib
- Nintedanib
- Fostamatinib
- Zanubrutinib
- Zotiraciclib
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
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LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
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- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
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LMNB1 |
lamin B1 |
- Meiotic synapsis
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Nuclear Envelope Breakdown
- Initiation of Nuclear Envelope (NE) Reformation
- Breakdown of the nuclear lamina
- Depolymerization of the Nuclear Lamina
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
- RHOD GTPase cycle
- RHOF GTPase cycle
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MAPKAP1 |
MAPK associated protein 1 |
- PIP3 activates AKT signaling
- CD28 dependent PI3K/Akt signaling
- VEGFR2 mediated vascular permeability
- Constitutive Signaling by AKT1 E17K in Cancer
- Regulation of TP53 Degradation
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
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MAPT |
microtubule associated protein tau |
- Caspase-mediated cleavage of cytoskeletal proteins
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- Lansoprazole
- Astemizole
- Paclitaxel
- Docetaxel
- Flortaucipir F-18
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- Progressive supranuclear palsy (PSP); Steele-Richardson-Olszewski syndrome
- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
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MARCKS |
myristoylated alanine rich protein kinase C substrate |
- Acetylcholine regulates insulin secretion
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MBP |
myelin basic protein |
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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MGMT |
O-6-methylguanine-DNA methyltransferase |
- MGMT-mediated DNA damage reversal
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- Cysteine
- Zinc
- S-Methylcysteine
- S-Benzylcysteine
- Dinitrochlorobenzene
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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MTOR |
mechanistic target of rapamycin kinase |
- PIP3 activates AKT signaling
- Macroautophagy
- MTOR signalling
- mTORC1-mediated signalling
- HSF1-dependent transactivation
- Energy dependent regulation of mTOR by LKB1-AMPK
- CD28 dependent PI3K/Akt signaling
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Regulation of TP53 Degradation
- Regulation of PTEN gene transcription
- Amino acids regulate mTORC1
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
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- Pimecrolimus
- Sirolimus
- Everolimus
- Rimiducid
- SF1126
- XL765
- Ridaforolimus
- Temsirolimus
- GSK-1059615
- Fostamatinib
- Oleandrin
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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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MYOD1 |
myogenic differentiation 1 |
- Myogenesis
- Myogenesis
- TGFBR3 expression
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NCF1 |
neutrophil cytosolic factor 1 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RAC3 GTPase cycle
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases activate PAKs
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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)
- Malignant pleural mesothelioma
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NFATC1 |
nuclear factor of activated T cells 1 |
- Calcineurin activates NFAT
- Calcineurin activates NFAT
- FCERI mediated Ca+2 mobilization
- Ca2+ pathway
- CLEC7A (Dectin-1) induces NFAT activation
- Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)
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