| Novel |
ABCB4
|
ATP binding cassette subfamily B member 4 |
- PPARA activates gene expression
- ABC-family proteins mediated transport
- Defective ABCB4 causes PFIC3, ICP3 and GBD1
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- Familial cholestasis, including: Progressive familial intrahepatic cholestasis (PFIC); Benign recurrent intrahepatic cholestasis (BRIC); Intrahepatic cholestasis of pregnancy (ICP); North American Indian childhood cirrhosis (NAIC)
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| Novel |
CBR1
|
carbonyl reductase 1 |
- Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
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- Rutin
- Resveratrol
- Heptaethylene glycol
- 2-(2-{2-[2-(2-{2-[2-(2-Ethoxy-Ethoxy)-Ethoxy]-Ethoxy}-Ethoxy)-Ethoxy]-Ethoxy}-Ethoxy)-Ethanol, Polyethyleneglycol Peg400
- Quercetin
- 3-(4-Amino-1-Tert-Butyl-1h-Pyrazolo[3,4-D]Pyrimidin-3-Yl)Phenol
- Curcumin
- Curcumin sulfate
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| Novel |
LAMB1
|
laminin subunit beta 1 |
- Degradation of the extracellular matrix
- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- L1CAM interactions
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- MET activates PTK2 signaling
- Post-translational protein phosphorylation
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- Attachment of bacteria to epithelial cells
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Developmental Lineage of Pancreatic Ductal Cells
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| Novel |
LRCH4
|
leucine rich repeats and calponin homology domain containing 4 |
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| Novel |
MT1H
|
metallothionein 1H |
- Metallothioneins bind metals
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| Novel |
RAP2B
|
RAP2B, member of RAS oncogene family |
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| Novel |
RPL30
|
ribosomal protein L30 |
- 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
- 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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| Novel |
TFR2
|
transferrin receptor 2 |
- Transferrin endocytosis and recycling
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- Ferrous sulfate anhydrous
- Ferric derisomaltose
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- Hemochromatosis (HFE); Juvenile hemochromatosis (JH)
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AKAP1
|
A-kinase anchoring protein 1 |
- Mitochondrial calcium ion transport
- Factors involved in megakaryocyte development and platelet production
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AKAP10
|
A-kinase anchoring protein 10 |
- Factors involved in megakaryocyte development and platelet production
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AKAP11
|
A-kinase anchoring protein 11 |
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AKAP14
|
A-kinase anchoring protein 14 |
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AKAP19
|
A-kinase anchoring protein 19 |
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AKAP4
|
A-kinase anchoring protein 4 |
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AKAP5
|
A-kinase anchoring protein 5 |
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Trafficking of AMPA receptors
- ROBO receptors bind AKAP5
- ROBO receptors bind AKAP5
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AKAP9
|
A-kinase anchoring protein 9 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Phase 3 - rapid repolarisation
- Phase 2 - plateau phase
- Anchoring of the basal body to the plasma membrane
- Signaling by BRAF and RAF1 fusions
- AURKA Activation by TPX2
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
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CFAP91
|
cilia and flagella associated protein 91 |
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ECM1
|
extracellular matrix protein 1 |
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- Lipoid proteinosis; Urbach-Wiethe disease
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GNAI3
|
G protein subunit alpha i3 |
- Adenylate cyclase inhibitory pathway
- Adenylate cyclase inhibitory pathway
- ADP signalling through P2Y purinoceptor 12
- G alpha (s) signalling events
- G alpha (i) signalling events
- G alpha (i) signalling events
- G alpha (z) signalling events
- Extra-nuclear estrogen signaling
- GPER1 signaling
- ADORA2B mediated anti-inflammatory cytokines production
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KIF5B
|
kinesin family member 5B |
- MHC class II antigen presentation
- Insulin processing
- RHO GTPases activate KTN1
- COPI-dependent Golgi-to-ER retrograde traffic
- Signaling by ALK fusions and activated point mutants
- Kinesins
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