Novel |
ALX4 |
ALX homeobox 4 |
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- Enlarged parietal foramina/cranium bifidum
- Frontonasal dysplasia
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Novel |
CREM |
cAMP responsive element modulator |
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Novel |
HSD17B12 |
hydroxysteroid 17-beta dehydrogenase 12 |
- Androgen biosynthesis
- Synthesis of very long-chain fatty acyl-CoAs
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Novel |
KBTBD4 |
kelch repeat and BTB domain containing 4 |
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Novel |
MTCH2 |
mitochondrial carrier 2 |
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Novel |
PEX11A |
peroxisomal biogenesis factor 11 alpha |
- PPARA activates gene expression
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
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Novel |
SLC35C1 |
solute carrier family 35 member C1 |
- Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
- GDP-fucose biosynthesis
- Transport of nucleotide sugars
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- Congenital disorders of glycosylation (CDG) type II
- Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I); Leukocyte adhesion deficiency (II); Leukocyte adhesion deficiency (III); LAD with Rac2 deficiency
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AKT1 |
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- MTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- Co-inhibition by CTLA4
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- FLT3 Signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- KEAP1-NFE2L2 pathway
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
- Mitochondrial unfolded protein response (UPRmt)
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
- Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
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- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- Archexin
- Enzastaurin
- Perifosine
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
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- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
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BECN1 |
beclin 1 |
- ISG15 antiviral mechanism
- Macroautophagy
- Ub-specific processing proteases
- Translation of Replicase and Assembly of the Replication Transcription Complex
- Translation of Replicase and Assembly of the Replication Transcription Complex
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
- RSV-host interactions
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- Estradiol
- Estradiol acetate
- Estradiol benzoate
- Estradiol cypionate
- Estradiol dienanthate
- Estradiol valerate
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CCND1 |
cyclin D1 |
- SCF(Skp2)-mediated degradation of p27/p21
- Pre-NOTCH Transcription and Translation
- RMTs methylate histone arginines
- Interleukin-4 and Interleukin-13 signaling
- Cyclin D associated events in G1
- Ubiquitin-dependent degradation of Cyclin D
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates Cell Cycle
- Transcriptional Regulation by VENTX
- Transcriptional regulation by RUNX2
- Regulation of RUNX1 Expression and Activity
- RUNX3 regulates WNT signaling
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Drug-mediated inhibition of CDK4/CDK6 activity
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
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- Acetylsalicylic acid
- Arsenic trioxide
- Encorafenib
- Bryostatin 1
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- Breast cancer
- Hairy-cell leukemia
- Oral cancer
- Multiple myeloma
- Laryngeal cancer
- von Hippel-Lindau syndrome
- Esophageal cancer
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CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- AKT phosphorylates targets in the cytosol
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1-dependent IKK and NF-kappa-B activation
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Constitutive Signaling by AKT1 E17K in Cancer
- NIK-->noncanonical NF-kB signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
- Regulation of NF-kappa B signaling
- PKR-mediated signaling
- SLC15A4:TASL-dependent IRF5 activation
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
- Modulation of host responses by IFN-stimulated genes
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- Aminosalicylic acid
- Mesalazine
- Acetylcysteine
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GABARAP |
GABA type A receptor-associated protein |
- Macroautophagy
- TBC/RABGAPs
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GABARAPL1 |
GABA type A receptor associated protein like 1 |
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GABARAPL2 |
GABA type A receptor associated protein like 2 |
- Macroautophagy
- TBC/RABGAPs
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MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
- Macroautophagy
- PINK1-PRKN Mediated Mitophagy
- Receptor Mediated Mitophagy
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MAP1LC3B |
microtubule associated protein 1 light chain 3 beta |
- Macroautophagy
- PINK1-PRKN Mediated Mitophagy
- TBC/RABGAPs
- Receptor Mediated Mitophagy
- Pexophagy
- Translation of Replicase and Assembly of the Replication Transcription Complex
- Translation of Replicase and Assembly of the Replication Transcription Complex
- SARS-CoV-2 modulates autophagy
- KEAP1-NFE2L2 pathway
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MAP1LC3C |
microtubule associated protein 1 light chain 3 gamma |
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MTOR |
mechanistic target of rapamycin kinase |
- PIP3 activates AKT signaling
- Macroautophagy
- MTOR signalling
- mTORC1-mediated signalling
- HSF1-dependent transactivation
- Energy dependent regulation of mTOR by LKB1-AMPK
- CD28 dependent PI3K/Akt signaling
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Regulation of TP53 Degradation
- Regulation of PTEN gene transcription
- Amino acids regulate mTORC1
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
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- Pimecrolimus
- Sirolimus
- Everolimus
- Rimiducid
- SF1126
- XL765
- Ridaforolimus
- Temsirolimus
- GSK-1059615
- Fostamatinib
- Oleandrin
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RNF2 |
ring finger protein 2 |
- Oxidative Stress Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription cofactors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA methylation proteins
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
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SNCA |
synuclein alpha |
- Amyloid fiber formation
- PKR-mediated signaling
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- Resveratrol
- Dequalinium
- Copper
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- Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
- Parkinson's disease (PD)
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