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BTK |
Bruton tyrosine kinase |
- ER-Phagosome pathway
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- DAP12 signaling
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- RHO GTPases Activate WASPs and WAVEs
- G beta:gamma signalling through BTK
- FCGR3A-mediated phagocytosis
- 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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- Dasatinib
- Inositol 1,3,4,5-Tetrakisphosphate
- XL418
- Ibrutinib
- Acalabrutinib
- Fostamatinib
- Zanubrutinib
- Abivertinib
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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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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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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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SNCA |
synuclein alpha |
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- Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
- Parkinson's disease (PD)
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- 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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- 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)
- Oral cancer
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ACTB |
actin beta |
- 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
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- 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
- B-WICH complex positively regulates rRNA expression
- 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
- UCH proteinases
- DNA Damage Recognition in GG-NER
- 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
- Factors involved in megakaryocyte development and platelet production
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- Quercetin
- Phenethyl Isothiocyanate
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- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
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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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CD19 |
CD19 molecule |
- PIP3 activates AKT signaling
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Constitutive Signaling by Aberrant PI3K in Cancer
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Regulation of Complement cascade
- 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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- Coltuximab ravtansine
- Blinatumomab
- Inebilizumab
- Tisagenlecleucel
- Axicabtagene ciloleucel
- Tafasitamab
- Brexucabtagene autoleucel
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- Common variable immunodeficiency (CVID), including the following four diseases: Inducible T Cell costimulator (ICOS) defect; TACI defect; CD19 defect; BAFFR defect
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CD79A |
CD79a molecule |
- CD22 mediated BCR regulation
- 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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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
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CD79B |
CD79b molecule |
- CD22 mediated BCR regulation
- 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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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
- SCF(Skp2)-mediated degradation of p27/p21
- AKT phosphorylates targets in the cytosol
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- RHO GTPases activate CIT
- Constitutive Signaling by AKT1 E17K in Cancer
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates Cell Cycle
- FLT3 Signaling
- FOXO-mediated transcription of cell cycle genes
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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CREBBP |
CREB binding protein |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Circadian Clock
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
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- Rubinstein-Taybi syndrome
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CSF1R |
colony stimulating factor 1 receptor |
- Other interleukin signaling
- Transcriptional Regulation by VENTX
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- Imatinib
- Sunitinib
- ABT-869
- 5-CYANO-FURAN-2-CARBOXYLIC ACID [5-HYDROXYMETHYL-2-(4-METHYL-PIPERIDIN-1-YL)-PHENYL]-AMIDE
- 6-CHLORO-3-(3-METHYLISOXAZOL-5-YL)-4-PHENYLQUINOLIN-2(1H)-ONE
- Fostamatinib
- Erdafitinib
- Pexidartinib
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EPOR |
erythropoietin receptor |
- Signaling by Erythropoietin
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
- Erythropoietin activates Phospholipase C gamma (PLCG)
- Erythropoietin activates STAT5
- Erythropoietin activates RAS
- Erythropoietin activates RAS
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- Darbepoetin alfa
- Erythropoietin
- Dibromotyrosine
- Peginesatide
- Methoxy polyethylene glycol-epoetin beta
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- Congenital polycythemia; Familial erythrocytosis (ECYT)
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FASLG |
Fas ligand |
- Caspase activation via Death Receptors in the presence of ligand
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- Interleukin-4 and Interleukin-13 signaling
- Dimerization of procaspase-8
- FasL/ CD95L signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- FOXO-mediated transcription of cell death genes
- TNFs bind their physiological receptors
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- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
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FCGR2A |
Fc fragment of IgG receptor IIa |
- FCGR activation
- FCGR activation
- Regulation of actin dynamics for phagocytic cup formation
- Role of phospholipids in phagocytosis
- Neutrophil degranulation
- FCGR3A-mediated IL10 synthesis
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- Cetuximab
- Etanercept
- Human immunoglobulin G
- Abciximab
- Alemtuzumab
- Daclizumab
- Bevacizumab
- Catumaxomab
- Sarilumab
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- Systemic lupus erythematosus
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FCGR2B |
Fc fragment of IgG receptor IIb |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
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- Etanercept
- Human immunoglobulin G
- Abciximab
- Tositumomab
- Alemtuzumab
- Antithymocyte immunoglobulin (rabbit)
- Palivizumab
- Daclizumab
- Bevacizumab
- Sarilumab
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- Systemic lupus erythematosus
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GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
- Activation of AMPA receptors
- Trafficking of AMPA receptors
- Trafficking of GluR2-containing AMPA receptors
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Synaptic adhesion-like molecules
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- Glutamic acid
- Butabarbital
- Ethanol
- Lithium cation
- Aniracetam
- Talampanel
- CX-717
- Fluciclovine (18F)
- Lithium citrate
- Lithium succinate
- Lithium carbonate
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
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IL7R |
interleukin 7 receptor |
- Interleukin-7 signaling
- Interleukin-7 signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
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- T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma
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ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
- PLC beta mediated events
- Effects of PIP2 hydrolysis
- Elevation of cytosolic Ca2+ levels
- DAG and IP3 signaling
- Role of phospholipids in phagocytosis
- FCERI mediated Ca+2 mobilization
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Ca2+ pathway
- cGMP effects
- Regulation of insulin secretion
- VEGFR2 mediated cell proliferation
- Ion homeostasis
- Ion homeostasis
- CLEC7A (Dectin-1) induces NFAT activation
- FCGR3A-mediated IL10 synthesis
- 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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- Caffeine
- 1D-myo-inositol 1,4,5-trisphosphate
- Glycerin
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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