Novel |
B3GNT3 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 |
- Keratan sulfate biosynthesis
- O-linked glycosylation of mucins
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Novel |
BST2 |
bone marrow stromal cell antigen 2 |
- Neutrophil degranulation
- Interferon alpha/beta signaling
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Novel |
CALML5 |
calmodulin like 5 |
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Novel |
CAPRIN1 |
cell cycle associated protein 1 |
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Novel |
FJX1 |
four-jointed box kinase 1 |
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Novel |
HIPK3 |
homeodomain interacting protein kinase 3 |
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Novel |
PAX6 |
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
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Novel |
PEX3 |
peroxisomal biogenesis factor 3 |
- ABC transporters in lipid homeostasis
- Class I peroxisomal membrane protein import
- Class I peroxisomal membrane protein import
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- Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
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AREG |
amphiregulin |
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- COPII-mediated vesicle transport
- EGFR interacts with phospholipase C-gamma
- Constitutive Signaling by Aberrant PI3K in Cancer
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- Cargo concentration in the ER
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Extra-nuclear estrogen signaling
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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BHLHE40 |
basic helix-loop-helix family member e40 |
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
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CASZ1 |
castor zinc finger 1 |
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CCDC136 |
coiled-coil domain containing 136 |
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CCDC33 |
coiled-coil domain containing 33 |
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CCL5 |
C-C motif chemokine ligand 5 |
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
- Interleukin-10 signaling
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- Heparin Disaccharide I-S
- Heparin Disaccharide Iii-S
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CEP70 |
centrosomal protein 70 |
- 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
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
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CIAO1 |
cytosolic iron-sulfur assembly component 1 |
- Cytosolic iron-sulfur cluster assembly
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CREBBP |
CREB binding protein |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Circadian Clock
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
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- Rubinstein-Taybi syndrome
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CYSRT1 |
cysteine rich tail 1 |
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DIRAS3 |
DIRAS family GTPase 3 |
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DVL2 |
dishevelled segment polarity protein 2 |
- TCF dependent signaling in response to WNT
- WNT mediated activation of DVL
- Signaling by Hippo
- PCP/CE pathway
- PCP/CE pathway
- Asymmetric localization of PCP proteins
- Degradation of DVL
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- WNT5A-dependent internalization of FZD4
- Negative regulation of TCF-dependent signaling by DVL-interacting proteins
- RHO GTPases Activate Formins
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- WNT5:FZD7-mediated leishmania damping
- WNT5:FZD7-mediated leishmania damping
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