Novel |
ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
- RAB GEFs exchange GTP for GDP on RABs
- RAC1 GTPase cycle
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- Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease
- Juvenile primary lateral sclerosis
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Novel |
AMT |
aminomethyltransferase |
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- Tetrahydrofolic acid
- NADH
- 5-methyltetrahydrofolic acid
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- Nonketotic hyperglycinemia; Glycine encephalopathy (GCE)
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Novel |
APPL1 |
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 |
- Caspase activation via Dependence Receptors in the absence of ligand
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Novel |
ATXN2 |
ataxin 2 |
|
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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Novel |
ATXN7 |
ataxin 7 |
- HATs acetylate histones
- Ub-specific processing proteases
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|
- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
|
Novel |
C1S |
complement C1s |
- Initial triggering of complement
- Classical antibody-mediated complement activation
- Regulation of Complement cascade
|
- Zinc
- 2-(2-Hydroxy-1,1-Dihydroxymethyl-Ethylamino)-Ethanesulfonic Acid
- Human C1-esterase inhibitor
- Copper
- Conestat alfa
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Sutimlimab
|
- Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency; C1q beta-chain deficiency; C1q gamma-chain deficiency; C1r deficiency; C1s deficiency; C2 deficiency; C3 deficiency; C4 deficiency
|
Novel |
CEACAM5 |
CEA cell adhesion molecule 5 |
- Post-translational modification: synthesis of GPI-anchored proteins
- Cell surface interactions at the vascular wall
|
- Labetuzumab
- S-[(1-Hydroxy-2,2,5,5-tetramethyl-2,5-dihydro-1H-pyrrol-3-yl)methyl] methanesulfonothioate
|
|
Novel |
DCAF1 |
DDB1 and CUL4 associated factor 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
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Novel |
DNASE1L3 |
deoxyribonuclease 1L3 |
|
|
|
Novel |
FBXL7 |
F-box and leucine rich repeat protein 7 |
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
|
|
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Novel |
KLF7 |
KLF transcription factor 7 |
|
|
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Novel |
PRMT1 |
protein arginine methyltransferase 1 |
- RMTs methylate histone arginines
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- Extra-nuclear estrogen signaling
- Estrogen-dependent gene expression
- Maturation of nucleoprotein
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- S-adenosyl-L-homocysteine
|
|
Novel |
PXMP2 |
peroxisomal membrane protein 2 |
- Glyoxylate metabolism and glycine degradation
- Class I peroxisomal membrane protein import
|
|
|
Novel |
PXN |
paxillin |
- GAB1 signalosome
- VEGFA-VEGFR2 Pathway
- Smooth Muscle Contraction
- Localization of the PINCH-ILK-PARVIN complex to focal adhesions
- Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition
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|
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Novel |
RAD54L2 |
RAD54 like 2 |
|
|
|
Novel |
RBM15B |
RNA binding motif protein 15B |
|
|
|
|
AGR2 |
anterior gradient 2, protein disulphide isomerase family member |
|
|
|
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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
|
- 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
|
- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
|
|
APIP |
APAF1 interacting protein |
- Formation of apoptosome
- Methionine salvage pathway
- Regulation of the apoptosome activity
|
|
|
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CEBPA |
CCAAT enhancer binding protein alpha |
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
|
|
- Acute myeloid leukemia (AML)
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