Novel |
EHMT2 |
euchromatic histone lysine methyltransferase 2 |
- Senescence-Associated Secretory Phenotype (SASP)
- PKMTs methylate histone lysines
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Regulation of TP53 Activity through Methylation
- RNA Polymerase I Transcription Initiation
- Transcriptional Regulation by VENTX
- Transcriptional Regulation by E2F6
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
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Novel |
PSPHP1 |
phosphoserine phosphatase pseudogene 1 |
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Novel |
RPS4X |
ribosomal protein S4 X-linked |
- 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
- Translation initiation complex formation
- Formation of a pool of free 40S subunits
- Formation of the ternary complex, and subsequently, the 43S complex
- Ribosomal scanning and start codon recognition
- 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
- SARS-CoV-1 modulates host translation machinery
- SARS-CoV-2 modulates host translation machinery
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
- 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 |
SIN3B |
SIN3 transcription regulator family member B |
- NoRC negatively regulates rRNA expression
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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Novel |
SLC39A2 |
solute carrier family 39 member 2 |
- Zinc influx into cells by the SLC39 gene family
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Novel |
TGFBI |
transforming growth factor beta induced |
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- Reis-Bucklers corneal dystrophy (RBCD); Corneal dystrophy of Bowman's type I; Granular corneal dystrophy type III
- Lattice corneal dystrophies (LCD), including: Biber-Haab-Dimmer dystrophy; Familial amyloid polyneuropathy type IV; Meretoja syndrome
- Thiel-Behnke dystrophies (TBCD); Corneal dystrophy of Bowman layer type II; Honeycomb corneal dystrophy; Anterior limiting membrane dystrophy type II; Curly fibers corneal dystrophy; Waardenburg-Jonker corneal dystrophy
- Granular corneal dystrophies (GCD), including: Corneal dystrophy Groenouw type I; Avellino corneal dystrophy; Granular-lattice dystrophy
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CYB5A |
cytochrome b5 type A |
- Vitamin C (ascorbate) metabolism
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- Dimethyl Propionate Ester Heme
- Chromium
- Chromic citrate
- Chromic nitrate
- Chromium gluconate
- Chromium nicotinate
- Chromous sulfate
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CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
- Androgen biosynthesis
- Glucocorticoid biosynthesis
- Defective CYP17A1 causes AH5
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- NADH
- Progesterone
- Spironolactone
- Ketoconazole
- Levoketoconazole
- Abiraterone
- Cannabidiol
- Medical Cannabis
- Nabiximols
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- Congenital adrenal hyperplasia (CAH)
- 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
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CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
- Methylation
- Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A2
- Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
- Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
- Aflatoxin activation and detoxification
- Biosynthesis of protectins
- Biosynthesis of maresin-like SPMs
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- Isoniazid
- alpha-Naphthoflavone
- Cannabidiol
- Diacerein
- Nabiximols
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CYP2A6 |
cytochrome P450 family 2 subfamily A member 6 |
- Xenobiotics
- CYP2E1 reactions
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- Coumarin
- N,N-DIMETHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE
- N-METHYL(5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE
- (5-(PYRIDIN-3-YL)FURAN-2-YL)METHANAMINE
- 4,4'-DIPYRIDYL DISULFIDE
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CYP2C19 |
cytochrome P450 family 2 subfamily C member 19 |
- Xenobiotics
- CYP2E1 reactions
- Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
- Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
- Aspirin ADME
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CYP2C9 |
cytochrome P450 family 2 subfamily C member 9 |
- Xenobiotics
- CYP2E1 reactions
- Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
- Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)
- Biosynthesis of maresin-like SPMs
- Aspirin ADME
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- Ferroheme C
- Diacerein
- Benzbromarone
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CYP2D6 |
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) |
- Fatty acids
- Miscellaneous substrates
- Xenobiotics
- CYP2E1 reactions
- Biosynthesis of maresin-like SPMs
- Aspirin ADME
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- Cannabidiol
- Diacerein
- Nabiximols
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CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
- Xenobiotics
- CYP2E1 reactions
- Biosynthesis of maresin-like SPMs
- Aspirin ADME
- Paracetamol ADME
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CYP3A4 |
cytochrome P450 family 3 subfamily A member 4 |
- Phase I - Functionalization of compounds
- Xenobiotics
- Aflatoxin activation and detoxification
- Biosynthesis of maresin-like SPMs
- Aspirin ADME
- Atorvastatin ADME
- Prednisone ADME
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- Glutathione
- Isoniazid
- Pradefovir mesylate
- Casopitant
- Cobicistat
- Diacerein
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FANCC |
FA complementation group C |
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- PKR-mediated signaling
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HMOX1 |
heme oxygenase 1 |
- Heme degradation
- Interleukin-4 and Interleukin-13 signaling
- The NLRP3 inflammasome
- Iron uptake and transport
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Cytoprotection by HMOX1
- Cytoprotection by HMOX1
- Regulation of HMOX1 expression and activity
- Heme signaling
- NFE2L2 regulating anti-oxidant/detoxification enzymes
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- NADH
- Formic acid
- Biliverdine IX Alpha
- 12-Phenylheme
- 2-Phenylheme
- Verdoheme
- Stannsoporfin
- 1-({2-[2-(4-CHLOROPHENYL)ETHYL]-1,3-DIOXOLAN-2-YL}METHYL)-1H-IMIDAZOLE
- 1-(adamantan-1-yl)-2-(1H-imidazol-1-yl)ethanone
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LINC01554 |
long intergenic non-protein coding RNA 1554 |
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RABEPK |
Rab9 effector protein with kelch motifs |
- Retrograde transport at the Trans-Golgi-Network
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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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