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GJA1 |
gap junction protein alpha 1 |
- Oligomerization of connexins into connexons
- Transport of connexins along the secretory pathway
- Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
- Gap junction assembly
- Gap junction assembly
- Gap junction degradation
- Regulation of gap junction activity
- Regulation of gap junction activity
- Formation of annular gap junctions
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- Syndactyly
- Deafness, autosomal recessive
- Oculodentodigital dysplasia
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- SUMOylation of immune response proteins
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- CLEC7A (Dectin-1) signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
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- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Incontinentia pigmenti
- Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
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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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- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- 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)
- Progressive supranuclear palsy (PSP); Steele-Richardson-Olszewski syndrome
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MET |
MET proto-oncogene, receptor tyrosine kinase |
- PIP3 activates AKT signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Sema4D mediated inhibition of cell attachment and migration
- RAF/MAP kinase cascade
- MET Receptor Activation
- Negative regulation of MET activity
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- MET activates RAS signaling
- MET activates PI3K/AKT signaling
- MET activates PTPN11
- MET activates PTK2 signaling
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- MET interacts with TNS proteins
- MET activates RAP1 and RAC1
- MET receptor recycling
- MET activates STAT3
- MECP2 regulates neuronal receptors and channels
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- K-252a
- SGX-523
- 1-(4-fluorophenyl)-N-[3-fluoro-4-(1H-pyrrolo[2,3-b]pyridin-4-yloxy)phenyl]-2-oxo-1,2-dihydropyridine-3-carboxamide
- N-({4-[(2-aminopyridin-4-yl)oxy]-3-fluorophenyl}carbamoyl)-2-(4-fluorophenyl)acetamide
- 2-(4-fluorophenyl)-N-{[3-fluoro-4-(1H-pyrrolo[2,3-b]pyridin-4-yloxy)phenyl]carbamoyl}acetamide
- N-(3-chlorophenyl)-N-methyl-2-oxo-3-[(3,4,5-trimethyl-1H-pyrrol-2-yl)methyl]-2H-indole-5-sulfonamide
- 3-[3-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)quinoxalin-5-yl]phenol
- AMG-208
- 1-[(2-NITROPHENYL)SULFONYL]-1H-PYRROLO[3,2-B]PYRIDINE-6-CARBOXAMIDE
- Crizotinib
- Cabozantinib
- Capmatinib
- Fostamatinib
- Tivantinib
- Brigatinib
- Amuvatinib
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- Renal cell carcinoma
- Cholangiocarcinoma
- Gastric cancer
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WAS |
WASP actin nucleation promoting factor |
- Generation of second messenger molecules
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Neutropenic disorders, including the following three diseases: Kostmann syndrome; Cyclic neutropenia; X-linked neutropenia/myelodysplasia
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
- Regulation of actin dynamics for phagocytic cup formation
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Myogenesis
- Myogenesis
- RHO GTPases Activate WASPs and WAVEs
- HDR through Single Strand Annealing (SSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Cyclin D associated events in G1
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
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- ATP
- Imatinib
- Dasatinib
- N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
- Nilotinib
- XL228
- Bosutinib
- 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
- Myristic acid
- PD-166326
- 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
- 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
- Regorafenib
- Ponatinib
- Fostamatinib
- Brigatinib
- Radotinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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BCR |
BCR activator of RhoGEF and GTPase |
- Signaling by cytosolic FGFR1 fusion mutants
- Rho GTPase cycle
- Signaling by FGFR1 in disease
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- Imatinib
- Dasatinib
- Bosutinib
- Ponatinib
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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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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ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
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- Lethal congenital contractural syndrome (LCCS)
- Type I diabetes mellitus
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FHIT |
fragile histidine triad diadenosine triphosphatase |
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- Adenosine monotungstate
- Ado-P-Ch2-P-Ps-Ado
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- Non-small cell lung cancer
- Small cell lung cancer
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IGF1R |
insulin like growth factor 1 receptor |
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- IRS-related events triggered by IGF1R
- SHC-related events triggered by IGF1R
- Extra-nuclear estrogen signaling
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- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Phosphoaminophosphonic Acid-Adenylate Ester
- ATL1101
- XL228
- rhIGFBP-3
- Linsitinib
- Teprotumumab
- (4Z)-6-bromo-4-({[4-(pyrrolidin-1-ylmethyl)phenyl]amino}methylidene)isoquinoline-1,3(2H,4H)-dione
- 3-[5-(1H-IMIDAZOL-1-YL)-7-METHYL-1H-BENZIMIDAZOL-2-YL]-4-[(PYRIDIN-2-YLMETHYL)AMINO]PYRIDIN-2(1H)-ONE
- Somatrem
- Insulin degludec
- Cixutumumab
- Brigatinib
- Mecasermin rinfabate
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- Malignant pleural mesothelioma
- Synovial sarcoma
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INSR |
insulin receptor |
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
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- Insulin human
- Insulin lispro
- Insulin glargine
- Insulin pork
- Mecasermin
- Insulin aspart
- Insulin detemir
- Insulin glulisine
- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- NN344
- AT1391
- [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID
- Chromic chloride
- Insulin degludec
- Fostamatinib
- Brigatinib
- Mecasermin rinfabate
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- Rabson-Mendenhall syndrome
- Leprechaunism ; Donohue syndrome
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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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JUP |
junction plakoglobin |
- Adherens junctions interactions
- VEGFR2 mediated vascular permeability
- Neutrophil degranulation
- Keratinization
- Formation of the cornified envelope
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- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Naxos disease and Carvajal 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
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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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NFKBIA |
NFKB inhibitor alpha |
- Activation of NF-kappaB in B cells
- RIP-mediated NFkB activation via ZBP1
- Downstream TCR signaling
- NF-kB is activated and signals survival
- FCERI mediated NF-kB activation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- SUMOylation of immune response proteins
- IkBA variant leads to EDA-ID
- CLEC7A (Dectin-1) signaling
- Ub-specific processing proteases
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
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- Acetylsalicylic acid
- Bardoxolone methyl
- Astaxanthin
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- Ectodermal dysplasia associated immunodeficiency (EDA-ID), including the following two diseases: NF-kappa-B essential modulator (NEMO) defect; Inhibitor of kappa-B (I-kappa-B) defect
- Hodgkin lymphoma
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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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RARA |
retinoic acid receptor alpha |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Signaling by Retinoic Acid
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Adapalene
- Acitretin
- Alitretinoin
- Tretinoin
- Tazarotene
- Etretinate
- Isotretinoin
- Tamibarotene
- LGD-1550
- Trifarotene
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Acute myeloid leukemia (AML)
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
- ERK/MAPK targets
- CREB phosphorylation
- Senescence-Associated Secretory Phenotype (SASP)
- Senescence-Associated Secretory Phenotype (SASP)
- Recycling pathway of L1
- CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
- RSK activation
- RSK activation
- Gastrin-CREB signalling pathway via PKC and MAPK
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- Acetylsalicylic acid
- Fostamatinib
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- Non-syndromic X-linked mental retardation
- Coffin-Lowry syndrome (CLS)
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SNCA |
synuclein alpha |
|
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- Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
- Parkinson's disease (PD)
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