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SETX |
senataxin |
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- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- Distal hereditary motor neuropathies (dHMN)
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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
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Antigen processing: Ubiquitination & Proteasome degradation
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SMAD2 |
SMAD family member 2 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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SMAD3 |
SMAD family member 3 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- Ub-specific processing proteases
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- Interleukin-37 signaling
- NOTCH4 Intracellular Domain Regulates Transcription
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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SMAD4 |
SMAD family member 4 |
- Signaling by NODAL
- Signaling by Activin
- Signaling by BMP
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- RUNX2 regulates bone development
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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- Colorectal cancer
- Hereditary hemorrhagic telangiectasia (HHT)
- Pancreatic cancer
- Juvenile polyposis syndrome
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SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
- Interleukin-7 signaling
- Formation of the beta-catenin:TCF transactivating complex
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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SMC1A |
structural maintenance of chromosomes 1A |
- Meiotic synapsis
- Separation of Sister Chromatids
- Establishment of Sister Chromatid Cohesion
- Cohesin Loading onto Chromatin
- Resolution of Sister Chromatid Cohesion
- SUMOylation of DNA damage response and repair proteins
- Estrogen-dependent gene expression
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- Cornelia de Lange syndrome (CdLS)
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SNRNP200 |
small nuclear ribonucleoprotein U5 subunit 200 |
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
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- Retinitis pigmentosa (RP)
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SNX3 |
sorting nexin 3 |
- WNT ligand biogenesis and trafficking
- Ub-specific processing proteases
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- S,S-(2-Hydroxyethyl)Thiocysteine
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SNX6 |
sorting nexin 6 |
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SOX30 |
SRY-box transcription factor 30 |
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SP1 |
Sp1 transcription factor |
- PPARA activates gene expression
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Activation of gene expression by SREBF (SREBP)
- Oncogene Induced Senescence
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- Estrogen-dependent gene expression
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SPATA4 |
spermatogenesis associated 4 |
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SQSTM1 |
sequestosome 1 |
- NRIF signals cell death from the nucleus
- p75NTR recruits signalling complexes
- NF-kB is activated and signals survival
- PINK1-PRKN Mediated Mitophagy
- Interleukin-1 signaling
- Pexophagy
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- Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
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SSX2IP |
SSX family member 2 interacting protein |
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STAC2 |
SH3 and cysteine rich domain 2 |
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STAT1 |
signal transducer and activator of transcription 1 |
- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- 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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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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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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STAT5A |
signal transducer and activator of transcription 5A |
- Prolactin receptor signaling
- Nuclear signaling by ERBB4
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signaling by Leptin
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-20 family signaling
- Interleukin-15 signaling
- Interleukin-9 signaling
- Interleukin-2 signaling
- Interleukin-2 signaling
- Interleukin-21 signaling
- Erythropoietin activates STAT5
- STAT5 Activation
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 fusion proteins
- Growth hormone receptor signaling
- Growth hormone receptor signaling
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