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Novel |
CAMSAP3 |
calmodulin regulated spectrin associated protein family member 3 |
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Novel |
CAV1 |
caveolin 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Extra-nuclear estrogen signaling
- FOXO-mediated transcription of cell cycle genes
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- Congenital generalized lipodystrophy (CGL)
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Novel |
FOXA3 |
forkhead box A3 |
- Regulation of gene expression in beta cells
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Novel |
KCND2 |
potassium voltage-gated channel subfamily D member 2 |
- Voltage gated Potassium channels
- Phase 1 - inactivation of fast Na+ channels
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- Enflurane
- Disopyramide
- Imipramine
- Promethazine
- Miconazole
- Dalfampridine
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Novel |
KLK2 |
kallikrein related peptidase 2 |
- Activation of Matrix Metalloproteinases
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
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Novel |
MRPL17 |
mitochondrial ribosomal protein L17 |
- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
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Novel |
PABPC1 |
poly(A) binding protein cytoplasmic 1 |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Deadenylation of mRNA
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Translation initiation complex formation
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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Novel |
RASSF7 |
Ras association domain family member 7 |
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Novel |
SH3KBP1 |
SH3 domain containing kinase binding protein 1 |
- EGFR downregulation
- Negative regulation of MET activity
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Reelin signalling pathway
- InlB-mediated entry of Listeria monocytogenes into host cell
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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Novel |
SLC26A3 |
solute carrier family 26 member 3 |
- Multifunctional anion exchangers
- Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
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Novel |
SLC26A4 |
solute carrier family 26 member 4 |
- Multifunctional anion exchangers
- Defective SLC26A4 causes Pendred syndrome (PDS)
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- Deafness, autosomal recessive
- Thyroid dyshormonogenesis; Dyshormogenetic goiter
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Novel |
SND1-IT1 |
SND1 intronic transcript 1 |
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ABL2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Negative regulation of FLT3
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- ATP
- Dasatinib
- XL228
- K-00546
- Fostamatinib
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BAG1 |
BAG cochaperone 1 |
- Regulation of HSF1-mediated heat shock response
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- (2R,3R,4S,5R)-2-[6-amino-8-[(3,4-dichlorophenyl)methylamino]purin-9-yl]-5-(hydroxymethyl)oxolane-3,4-diol
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BCAR3 |
BCAR3 adaptor protein, NSP family member |
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BLK |
BLK proto-oncogene, Src family tyrosine kinase |
- RUNX1 regulates transcription of genes involved in BCR signaling
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Fostamatinib
- Zanubrutinib
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- Maturity onset diabetes of the young (MODY)
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BTK |
Bruton tyrosine kinase |
- ER-Phagosome pathway
- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Regulation of actin dynamics for phagocytic cup formation
- DAP12 signaling
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- MyD88 deficiency (TLR2/4)
- IRAK4 deficiency (TLR2/4)
- RHO GTPases Activate WASPs and WAVEs
- G beta:gamma signalling through BTK
- FCGR3A-mediated phagocytosis
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Dasatinib
- Inositol 1,3,4,5-Tetrakisphosphate
- XL418
- Ibrutinib
- Acalabrutinib
- Fostamatinib
- Zanubrutinib
- Abivertinib
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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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CASP3 |
caspase 3 |
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Apoptotic cleavage of cellular proteins
- SMAC, XIAP-regulated apoptotic response
- Apoptosis induced DNA fragmentation
- Degradation of the extracellular matrix
- Signaling by Hippo
- NADE modulates death signalling
- Stimulation of the cell death response by PAK-2p34
- Caspase-mediated cleavage of cytoskeletal proteins
- Apoptotic cleavage of cell adhesion proteins
- Caspase activation via Dependence Receptors in the absence of ligand
- Caspase activation via Dependence Receptors in the absence of ligand
- Other interleukin signaling
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- Pamidronic acid
- Acetylsalicylic acid
- Minocycline
- 5-[4-(1-Carboxymethyl-2-Oxo-Propylcarbamoyl)-Benzylsulfamoyl]-2-Hydroxy-Benzoic Acid
- Emricasan
- Incadronic acid
- 2-HYDROXY-5-(2-MERCAPTO-ETHYLSULFAMOYL)-BENZOIC ACID
- methyl (3S)-3-[(tert-butoxycarbonyl)amino]-4-oxopentanoate
- 1-METHYL-5-(2-PHENOXYMETHYL-PYRROLIDINE-1-SULFONYL)-1H-INDOLE-2,3-DIONE
- [N-(3-dibenzylcarbamoyl-oxiranecarbonyl)-hydrazino]-acetic acid
- 4-[5-(2-CARBOXY-1-FORMYL-ETHYLCARBAMOYL)-PYRIDIN-3-YL]-BENZOIC ACID
- (1S)-2-oxo-1-phenyl-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate
- (1S)-1-(3-chlorophenyl)-2-oxo-2-[(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-5-yl)amino]ethyl acetate
- N-[3-(2-fluoroethoxy)phenyl]-N'-(1,3,4-trioxo-1,2,3,4-tetrahydroisoquinolin-6-yl)butanediamide
- Glycyrrhizic acid
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CBL |
Cbl proto-oncogene |
- Interleukin-6 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Spry regulation of FGF signaling
- Regulation of KIT signaling
- EGFR downregulation
- TGF-beta receptor signaling activates SMADs
- Constitutive Signaling by EGFRvIII
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Negative regulation of MET activity
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Negative regulation of FLT3
- FLT3 signaling by CBL mutants
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- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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CCND2 |
cyclin D2 |
- Cyclin D associated events in G1
- Regulation of RUNX1 Expression and Activity
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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