Novel |
RPL18A |
ribosomal protein L18a |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Peptide chain elongation
- SRP-dependent cotranslational protein targeting to membrane
- SRP-dependent cotranslational protein targeting to membrane
- Viral mRNA Translation
- Selenocysteine synthesis
- Major pathway of rRNA processing in the nucleolus and cytosol
- Formation of a pool of free 40S subunits
- GTP hydrolysis and joining of the 60S ribosomal subunit
- Eukaryotic Translation Termination
- Regulation of expression of SLITs and ROBOs
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
- Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
- Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
- PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
- ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA
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Novel |
RPS6KA2 |
ribosomal protein S6 kinase A2 |
- 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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Novel |
RUNX1 |
RUNX family transcription factor 1 |
- Pre-NOTCH Transcription and Translation
- SLC-mediated transport of organic cations
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
- SARS-CoV-1 activates/modulates innate immune responses
- Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)
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- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Acute myeloid leukemia (AML)
- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
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Novel |
RUNX2 |
RUNX family transcription factor 2 |
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Novel |
SKI |
SKI proto-oncogene |
- Signaling by BMP
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
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Novel |
SMAD2 |
SMAD family member 2 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- 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
- Germ layer formation at gastrulation
- Formation of axial mesoderm
- Formation of definitive endoderm
- Formation of definitive endoderm
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Novel |
SMAD3 |
SMAD family member 3 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- 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
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- Germ layer formation at gastrulation
- Formation of axial mesoderm
- Formation of definitive endoderm
- Formation of definitive endoderm
- TGFBR3 expression
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Novel |
SMAD4 |
SMAD family member 4 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- 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
- Cardiogenesis
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- Germ layer formation at gastrulation
- Formation of definitive endoderm
- Formation of definitive endoderm
- TGFBR3 expression
- Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
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- Colorectal cancer
- Juvenile polyposis syndrome
- Hereditary hemorrhagic telangiectasia (HHT)
- Pancreatic cancer
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Novel |
SMARCD1 |
SWI/SNF related BAF chromatin remodeling complex subunit D1 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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Novel |
SMARCD3 |
SWI/SNF related BAF chromatin remodeling complex subunit D3 |
- BMAL1:CLOCK,NPAS2 activates circadian expression
- PPARA activates gene expression
- PPARA activates gene expression
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- RMTs methylate histone arginines
- Transcriptional regulation of white adipocyte differentiation
- Regulation of lipid metabolism by PPARalpha
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Cytoprotection by HMOX1
- Heme signaling
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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Novel |
SNAPC5 |
small nuclear RNA activating complex polypeptide 5 |
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
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Novel |
SNIP1 |
Smad nuclear interacting protein 1 |
- mRNA Splicing - Major Pathway
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Novel |
SNRK |
SNF related kinase |
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Novel |
SOX10 |
SRY-box transcription factor 10 |
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- Regulation of CDH19 Expression and Function
- Regulation of MITF-M-dependent genes involved in pigmentation
- Transcriptional and post-translational regulation of MITF-M expression and activity
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- Waardenburg syndrome (WS)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
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Novel |
SOX8 |
SRY-box transcription factor 8 |
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Novel |
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
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- Regulation of CDH11 gene transcription
- Regulation of CDH11 gene transcription
- Positive Regulation of CDH1 Gene Transcription
- NFE2L2 regulating tumorigenic genes
- TGFBR3 expression
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Novel |
SPI1 |
Spi-1 proto-oncogene |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Acute myeloid leukemia (AML)
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Novel |
SPIB |
Spi-B transcription factor |
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Novel |
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
- Interferon alpha/beta 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
- Signaling by CSF3 (G-CSF)
- Signaling by CSF1 (M-CSF) in myeloid cells
- Inactivation of CSF3 (G-CSF) signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Signaling by ALK fusions and activated point mutants
- Growth hormone receptor signaling
- PKR-mediated signaling
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
- Regulation of PD-L1(CD274) transcription
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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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Novel |
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
- Signaling by ALK
- 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
- Signaling by CSF3 (G-CSF)
- Signaling by CSF1 (M-CSF) in myeloid cells
- STAT3 nuclear events downstream of ALK signaling
- Inactivation of CSF3 (G-CSF) signaling
- Cytoprotection by HMOX1
- Signaling by ALK fusions and activated point mutants
- Nuclear events stimulated by ALK signaling in cancer
- Growth hormone receptor signaling
- PKR-mediated signaling
- Regulation of PD-L1(CD274) transcription
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- Oral cancer
- 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)
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