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IDUA |
alpha-L-iduronidase |
- HS-GAG degradation
- CS/DS degradation
- MPS I - Hurler syndrome (HS-GAG degradation)
- MPS I - Hurler syndrome (CS/DS degradation)
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- Mucopolysaccharidosis type I (MPS1); Hurler-Scheie syndrome (MPS1HS); Hurler syndrome (MPS1H); Scheie syndrome (MPS1S)
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IRF2BPL |
interferon regulatory factor 2 binding protein like |
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KRT8 |
keratin 8 |
- 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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- Tenecteplase
- Lanoteplase
- Copper
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NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
- Respiratory electron transport
- Complex I biogenesis
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- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
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NECTIN1 |
nectin cell adhesion molecule 1 |
- Adherens junctions interactions
- Nectin/Necl trans heterodimerization
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
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POLA2 |
DNA polymerase alpha 2, accessory subunit |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Polymerase switching on the C-strand of the telomere
- Telomere C-strand synthesis initiation
- DNA replication initiation
- Activation of the pre-replicative complex
- Polymerase switching
- Removal of the Flap Intermediate
- Processive synthesis on the lagging strand
- Defective pyroptosis
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PTK2B |
protein tyrosine kinase 2 beta |
- Signal regulatory protein family interactions
- VEGFA-VEGFR2 Pathway
- RHOU GTPase cycle
- Interleukin-2 signaling
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- Leflunomide
- Genistein
- 4-{[4-{[(1R,2R)-2-(dimethylamino)cyclopentyl]amino}-5-(trifluoromethyl)pyrimidin-2-yl]amino}-N-methylbenzenesulfonamide
- Fostamatinib
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RADIL |
Rap associating with DIL domain |
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RNF130 |
ring finger protein 130 |
- Antigen processing: Ubiquitination & Proteasome degradation
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RPL8 |
ribosomal protein L8 |
- 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
- Protein hydroxylation
- 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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- (S)-3-phenyllactic acid
- Anisomycin
- Puromycin
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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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SH2B1 |
SH2B adaptor protein 1 |
- Factors involved in megakaryocyte development and platelet production
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SLC25A6 |
solute carrier family 25 member 6 |
- Mitochondrial protein import
- Mitochondrial protein import
- Influenza Virus Induced Apoptosis
- Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
- Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
- Mitochondrial protein degradation
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- Clodronic acid
- Etidronic acid
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SMG7 |
SMG7 nonsense mediated mRNA decay factor |
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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SRPK2 |
SRSF protein kinase 2 |
- Maturation of nucleoprotein
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- Adenine
- Purvalanol
- Phosphoaminophosphonic Acid-Adenylate Ester
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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
- 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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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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STK32B |
serine/threonine kinase 32B |
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