ABHD17A |
abhydrolase domain containing 17A, depalmitoylase |
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ABLIM1 |
actin binding LIM protein 1 |
- DCC mediated attractive signaling
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ADAP1 |
ArfGAP with dual PH domains 1 |
- Nuclear signaling by ERBB4
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AFF4 |
AF4/FMR2 family member 4 |
- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
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ALKBH3 |
alkB homolog 3, alpha-ketoglutaratedependent dioxygenase |
- ALKBH3 mediated reversal of alkylation damage
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AMOTL2 |
angiomotin like 2 |
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ANKRD11 |
ankyrin repeat domain 11 |
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ANKRD36BP1 |
ankyrin repeat domain 36B pseudogene 1 |
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APC |
APC regulator of WNT signaling pathway |
- Apoptotic cleavage of cellular proteins
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Deactivation of the beta-catenin transactivating complex
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Misspliced GSK3beta mutants stabilize beta-catenin
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants are not K63 polyubiquitinated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Ovarian tumor domain proteases
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- Familial adenomatous polyposis
- Esophageal cancer
- Gastric cancer
- Cancer of the anal canal
- Gallbladder cancer
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ARID5A |
AT-rich interaction domain 5A |
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ARL16 |
ADP ribosylation factor like GTPase 16 |
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ARL4A |
ADP ribosylation factor like GTPase 4A |
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
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ARPC3 |
actin related protein 2/3 complex subunit 3 |
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- EPHB-mediated forward signaling
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- Clathrin-mediated endocytosis
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
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- N-[2-(2-methyl-1H-indol-3-yl)ethyl]thiophene-2-carboxamide
- (2S)-2-(3-bromophenyl)-3-(5-chloro-2-hydroxyphenyl)-1,3-thiazolidin-4-one
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ATP6V1C2 |
ATPase H+ transporting V1 subunit C2 |
- ROS and RNS production in phagocytes
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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ATP6V1D |
ATPase H+ transporting V1 subunit D |
- ROS and RNS production in phagocytes
- Neutrophil degranulation
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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ATP6V1G1 |
ATPase H+ transporting V1 subunit G1 |
- ROS and RNS production in phagocytes
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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ATXN7 |
ataxin 7 |
- HATs acetylate histones
- Ub-specific processing proteases
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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AXIN1 |
axin 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Degradation of AXIN
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Misspliced GSK3beta mutants stabilize beta-catenin
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Ub-specific processing proteases
- RUNX1 regulates estrogen receptor mediated transcription
- RUNX1 regulates transcription of genes involved in WNT signaling
- Estrogen-dependent gene expression
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- Hepatocellular carcinoma
- Caudal duplication anomaly
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BAHD1 |
bromo adjacent homology domain containing 1 |
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BARD1 |
BRCA1 associated RING domain 1 |
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- UCH proteinases
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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BCAS2 |
BCAS2 pre-mRNA processing factor |
- mRNA Splicing - Major Pathway
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BCL6 |
BCL6 transcription repressor |
- Interleukin-4 and Interleukin-13 signaling
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- FOXO-mediated transcription of cell death genes
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BCL6B |
BCL6B transcription repressor |
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BMS1P1 |
BMS1 pseudogene 1 |
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BYSL |
bystin like |
- Major pathway of rRNA processing in the nucleolus and cytosol
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C12orf50 |
chromosome 12 open reading frame 50 |
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C1orf109 |
chromosome 1 open reading frame 109 |
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C1orf35 |
chromosome 1 open reading frame 35 |
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C2CD6 |
C2 calcium dependent domain containing 6 |
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C9orf16 |
chromosome 9 open reading frame 16 |
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CBX8 |
chromobox 8 |
- 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
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CBY2 |
chibby family member 2 |
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CCAR1 |
cell division cycle and apoptosis regulator 1 |
- mRNA Splicing - Major Pathway
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CCDC146 |
coiled-coil domain containing 146 |
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CCDC150 |
coiled-coil domain containing 150 |
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CCDC17 |
coiled-coil domain containing 17 |
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CCDC198 |
coiled-coil domain containing 198 |
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CCDC70 |
coiled-coil domain containing 70 |
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CCDC87 |
coiled-coil domain containing 87 |
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CCDC92 |
coiled-coil domain containing 92 |
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CCHCR1 |
coiled-coil alpha-helical rod protein 1 |
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CCNC |
cyclin C |
- PPARA activates gene expression
- NOTCH1 Intracellular Domain Regulates Transcription
- Generic Transcription Pathway
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
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CCNH |
cyclin H |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Tat-mediated elongation of the HIV-1 transcript
- NoRC negatively regulates rRNA expression
- Formation of Incision Complex in GG-NER
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A/B1/B2 associated events during G2/M transition
- Cyclin A:Cdk2-associated events at S phase entry
- mRNA Capping
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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CDC20B |
cell division cycle 20B |
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CDC5L |
cell division cycle 5 like |
- mRNA Splicing - Major Pathway
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CDC73 |
cell division cycle 73 |
- Formation of RNA Pol II elongation complex
- Formation of the beta-catenin:TCF transactivating complex
- Hedgehog 'on' state
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
- E3 ubiquitin ligases ubiquitinate target proteins
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- Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)
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CDCA7 |
cell division cycle associated 7 |
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CDK1 |
cyclin dependent kinase 1 |
- MAPK3 (ERK1) activation
- E2F-enabled inhibition of pre-replication complex formation
- Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
- Golgi Cisternae Pericentriolar Stack Reorganization
- Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes
- APC/C:Cdc20 mediated degradation of Cyclin B
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Regulation of APC/C activators between G1/S and early anaphase
- Phosphorylation of the APC/C
- Phosphorylation of Emi1
- Condensation of Prophase Chromosomes
- MASTL Facilitates Mitotic Progression
- Resolution of Sister Chromatid Cohesion
- Condensation of Prometaphase Chromosomes
- Regulation of PLK1 Activity at G2/M Transition
- Activation of NIMA Kinases NEK9, NEK6, NEK7
- Initiation of Nuclear Envelope (NE) Reformation
- Nuclear Pore Complex (NPC) Disassembly
- 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
- Depolymerisation of the Nuclear Lamina
- Anchoring of the basal body to the plasma membrane
- MAPK6/MAPK4 signaling
- Ovarian tumor domain proteases
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Degradation
- Mitotic Prophase
- G1/S-Specific Transcription
- Cyclin A/B1/B2 associated events during G2/M transition
- Cyclin A/B1/B2 associated events during G2/M transition
- G2/M DNA replication checkpoint
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- The role of GTSE1 in G2/M progression after G2 checkpoint
- AURKA Activation by TPX2
- Transcriptional regulation by RUNX2
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- Indirubin-3'-Monoxime
- Olomoucine
- Hymenialdisine
- SU9516
- Alvocidib
- Alsterpaullone
- AT7519
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CDK18 |
cyclin dependent kinase 18 |
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CDKL3 |
cyclin dependent kinase like 3 |
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CENPP |
centromere protein P |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- RHO GTPases Activate Formins
- Deposition of new CENPA-containing nucleosomes at the centromere
- Mitotic Prometaphase
- EML4 and NUDC in mitotic spindle formation
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CEP55 |
centrosomal protein 55 |
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CEP57L1 |
centrosomal protein 57 like 1 |
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CHCHD2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
- Mitochondrial protein import
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CHCHD3 |
coiled-coil-helix-coiled-coil-helix domain containing 3 |
- Mitochondrial protein import
- Cristae formation
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CINP |
cyclin dependent kinase 2 interacting protein |
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CKB |
creatine kinase B |
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COG6 |
component of oligomeric golgi complex 6 |
- COPI-mediated anterograde transport
- Intra-Golgi traffic
- Retrograde transport at the Trans-Golgi-Network
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CORO1A |
coronin 1A |
- Prevention of phagosomal-lysosomal fusion
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CRMP1 |
collapsin response mediator protein 1 |
- CRMPs in Sema3A signaling
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CSPP1 |
centrosome and spindle pole associated protein 1 |
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CSTF2T |
cleavage stimulation factor subunit 2 tau variant |
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Processing of Intronless Pre-mRNAs
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CUL5 |
cullin 5 |
- Vif-mediated degradation of APOBEC3G
- Downregulation of ERBB2 signaling
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
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CYB5R2 |
cytochrome b5 reductase 2 |
- Erythrocytes take up carbon dioxide and release oxygen
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DAXX |
death domain associated protein |
- SUMOylation of transcription cofactors
- Regulation of TP53 Degradation
- HCMV Early Events
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DCTN4 |
dynactin subunit 4 |
- MHC class II antigen presentation
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- COPI-mediated anterograde transport
- COPI-independent Golgi-to-ER retrograde traffic
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DCX |
doublecortin |
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- Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
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DDX6 |
DEAD-box helicase 6 |
- mRNA decay by 5' to 3' exoribonuclease
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DEUP1 |
deuterosome assembly protein 1 |
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DGCR6 |
DiGeorge syndrome critical region gene 6 |
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DLGAP5 |
DLG associated protein 5 |
- NOTCH3 Intracellular Domain Regulates Transcription
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DLX6-AS1 |
DLX6 antisense RNA 1 |
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DMTN |
dematin actin binding protein |
- Miscellaneous transport and binding events
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DNM2 |
dynamin 2 |
- Toll Like Receptor 4 (TLR4) Cascade
- Retrograde neurotrophin signalling
- Gap junction degradation
- Formation of annular gap junctions
- NOSTRIN mediated eNOS trafficking
- MHC class II antigen presentation
- Lysosome Vesicle Biogenesis
- Golgi Associated Vesicle Biogenesis
- Recycling pathway of L1
- Clathrin-mediated endocytosis
- NGF-stimulated transcription
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- Centronuclear myopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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DOLPP1 |
dolichyldiphosphatase 1 |
- Synthesis of Dolichyl-phosphate
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DTX2 |
deltex E3 ubiquitin ligase 2 |
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
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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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EAF2 |
ELL associated factor 2 |
- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
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EFHC1 |
EF-hand domain containing 1 |
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- Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
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EGR2 |
early growth response 2 |
- Transcriptional regulation of white adipocyte differentiation
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- NGF-stimulated transcription
- NGF-stimulated transcription
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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EIF3G |
eukaryotic translation initiation factor 3 subunit G |
- L13a-mediated translational silencing of Ceruloplasmin expression
- Translation initiation complex formation
- Formation of a pool of free 40S subunits
- Formation of the ternary complex, and subsequently, the 43S complex
- Ribosomal scanning and start codon recognition
- GTP hydrolysis and joining of the 60S ribosomal subunit
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EIF4A2 |
eukaryotic translation initiation factor 4A2 |
- ISG15 antiviral mechanism
- L13a-mediated translational silencing of Ceruloplasmin expression
- Deadenylation of mRNA
- Translation initiation complex formation
- Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
- Ribosomal scanning and start codon recognition
- GTP hydrolysis and joining of the 60S ribosomal subunit
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EP300 |
E1A binding protein p300 |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- RORA activates gene expression
- Polo-like kinase mediated events
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- 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
- NOTCH2 intracellular domain regulates transcription
- 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
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Circadian Clock
- Circadian Clock
- B-WICH complex positively regulates rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- Metalloprotease DUBs
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NGF-stimulated transcription
- NGF-stimulated transcription
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- Rubinstein-Taybi syndrome
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Tat-mediated elongation of the HIV-1 transcript
- NoRC negatively regulates rRNA expression
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- mRNA Capping
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
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- Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
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EXOSC5 |
exosome component 5 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 3' to 5' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- Major pathway of rRNA processing in the nucleolus and cytosol
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FAM110A |
family with sequence similarity 110 member A |
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FAM124B |
family with sequence similarity 124 member B |
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FAM126B |
family with sequence similarity 126 member B |
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FAM161A |
FAM161 centrosomal protein A |
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- Retinitis pigmentosa (RP)
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FAM184A |
family with sequence similarity 184 member A |
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FAM193B |
family with sequence similarity 193 member B |
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FAM207A |
family with sequence similarity 207 member A |
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FAM214A |
family with sequence similarity 214 member A |
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FAM50B |
family with sequence similarity 50 member B |
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FAM90A1 |
family with sequence similarity 90 member A1 |
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FANCG |
FA complementation group G |
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FBF1 |
Fas binding factor 1 |
- Anchoring of the basal body to the plasma membrane
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FBXL18 |
F-box and leucine rich repeat protein 18 |
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FBXO28 |
F-box protein 28 |
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FIP1L1 |
factor interacting with PAPOLA and CPSF1 |
- Transport of Mature mRNA Derived from an Intronless Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Processing of Intronless Pre-mRNAs
- Signaling by cytosolic PDGFRA and PDGFRB fusion proteins
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FNDC11 |
fibronectin type III domain containing 11 |
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GATA1 |
GATA binding protein 1 |
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Factors involved in megakaryocyte development and platelet production
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Congenital dyserythropoietic anemias (CDAs)
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GATA2 |
GATA binding protein 2 |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Transcriptional regulation of granulopoiesis
- Factors involved in megakaryocyte development and platelet production
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GATAD2B |
GATA zinc finger domain containing 2B |
- HDACs deacetylate histones
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Regulation of TP53 Activity through Acetylation
- RNA Polymerase I Transcription Initiation
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
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GCC1 |
GRIP and coiled-coil domain containing 1 |
- Retrograde transport at the Trans-Golgi-Network
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GEM |
GTP binding protein overexpressed in skeletal muscle |
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GFAP |
glial fibrillary acidic protein |
- Nuclear signaling by ERBB4
- Chaperone Mediated Autophagy
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GGA2 |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
- TBC/RABGAPs
- Amyloid fiber formation
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GLE1 |
GLE1 RNA export mediator |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
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- Lethal arthrogryposis with anterior horn cell disease
- Lethal congenital contractural syndrome (LCCS)
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GLYCTK |
glycerate kinase |
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GMCL1 |
germ cell-less 1, spermatogenesis associated |
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GNG5 |
G protein subunit gamma 5 |
- Activation of G protein gated Potassium channels
- Glucagon signaling in metabolic regulation
- G-protein activation
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- ADP signalling through P2Y purinoceptor 12
- G beta:gamma signalling through PI3Kgamma
- Prostacyclin signalling through prostacyclin receptor
- Prostacyclin signalling through prostacyclin receptor
- Adrenaline,noradrenaline inhibits insulin secretion
- Adrenaline,noradrenaline inhibits insulin secretion
- Ca2+ pathway
- Ca2+ pathway
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- G beta:gamma signalling through PLC beta
- G alpha (s) signalling events
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
- G alpha (i) signalling events
- G alpha (z) signalling events
- Glucagon-type ligand receptors
- Thromboxane signalling through TP receptor
- Vasopressin regulates renal water homeostasis via Aquaporins
- Thrombin signalling through proteinase activated receptors (PARs)
- Thrombin signalling through proteinase activated receptors (PARs)
- Presynaptic function of Kainate receptors
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- G beta:gamma signalling through BTK
- G beta:gamma signalling through CDC42
- Extra-nuclear estrogen signaling
- ADORA2B mediated anti-inflammatory cytokines production
- Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
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GORASP1 |
golgi reassembly stacking protein 1 |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
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GORASP2 |
golgi reassembly stacking protein 2 |
- Golgi Cisternae Pericentriolar Stack Reorganization
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GPANK1 |
G-patch domain and ankyrin repeats 1 |
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GPKOW |
G-patch domain and KOW motifs |
- mRNA Splicing - Major Pathway
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GPS2 |
G protein pathway suppressor 2 |
- PPARA activates gene expression
- HDACs deacetylate histones
- Loss of MECP2 binding ability to the NCoR/SMRT complex
- Regulation of MECP2 expression and activity
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- HCMV Early Events
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GRAP2 |
GRB2 related adaptor protein 2 |
- Signaling by SCF-KIT
- Generation of second messenger molecules
- DAP12 signaling
- FCERI mediated MAPK activation
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
- CD28 co-stimulation
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GSE1 |
Gse1 coiled-coil protein |
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GTPBP10 |
GTP binding protein 10 |
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GZMA |
granzyme A |
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GZMK |
granzyme K |
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HAUS1 |
HAUS augmin like complex subunit 1 |
- 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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HDAC4 |
histone deacetylase 4 |
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- RUNX2 regulates chondrocyte maturation
- RUNX3 regulates p14-ARF
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- Zinc
- Belinostat
- Romidepsin
- Panobinostat
- N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide
- 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL
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- Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
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HGS |
hepatocyte growth factor-regulated tyrosine kinase substrate |
- EGFR downregulation
- Lysosome Vesicle Biogenesis
- Ub-specific processing proteases
- Negative regulation of MET activity
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- InlB-mediated entry of Listeria monocytogenes into host cell
- Endosomal Sorting Complex Required For Transport (ESCRT)
- Inhibition of membrane repair
- Prevention of phagosomal-lysosomal fusion
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HOXB9 |
homeobox B9 |
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HTRA1 |
HtrA serine peptidase 1 |
- Degradation of the extracellular matrix
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- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
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HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IFT20 |
intraflagellar transport 20 |
- Intraflagellar transport
- Intraflagellar transport
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IFT27 |
intraflagellar transport 27 |
- Intraflagellar transport
- Intraflagellar transport
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IHO1 |
interactor of HORMAD1 1 |
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IKZF3 |
IKAROS family zinc finger 3 |
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INPP5J |
inositol polyphosphate-5-phosphatase J |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP2, IP, and Ins in the cytosol
- Synthesis of IP3 and IP4 in the cytosol
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IQCE |
IQ motif containing E |
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ISCU |
iron-sulfur cluster assembly enzyme |
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ITPKB |
inositol-trisphosphate 3-kinase B |
- Synthesis of IP3 and IP4 in the cytosol
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ITSN2 |
intersectin 2 |
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
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KANK2 |
KN motif and ankyrin repeat domains 2 |
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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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KAT5 |
lysine acetyltransferase 5 |
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- DNA Damage/Telomere Stress Induced Senescence
- HATs acetylate histones
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Estrogen-dependent gene expression
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- Coenzyme A
- S-Acetyl-Cysteine
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KDM1A |
lysine demethylase 1A |
- HDACs deacetylate histones
- HDMs demethylate histones
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- Factors involved in megakaryocyte development and platelet production
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KIAA1217 |
KIAA1217 |
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KIFC3 |
kinesin family member C3 |
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KRT18 |
keratin 18 |
- Keratinization
- Formation of the cornified envelope
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KRT6A |
keratin 6A |
- Keratinization
- Formation of the cornified envelope
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- Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
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KRT6B |
keratin 6B |
- Keratinization
- Formation of the cornified envelope
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- Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
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KRT6C |
keratin 6C |
- Keratinization
- Formation of the cornified envelope
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LASP1 |
LIM and SH3 protein 1 |
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LATS1 |
large tumor suppressor kinase 1 |
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LCOR |
ligand dependent nuclear receptor corepressor |
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LCP2 |
lymphocyte cytosolic protein 2 |
- GPVI-mediated activation cascade
- Generation of second messenger molecules
- Generation of second messenger molecules
- DAP12 signaling
- FCERI mediated MAPK activation
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
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LENG1 |
leukocyte receptor cluster member 1 |
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LGALS3 |
galectin 3 |
- Neutrophil degranulation
- Advanced glycosylation endproduct receptor signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX2 regulates genes involved in differentiation of myeloid cells
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- 2,3,5,6-Tetrafluoro-4-Methoxy-Benzamide
- Lactose
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LHX4 |
LIM homeobox 4 |
- Regulation of expression of SLITs and ROBOs
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- 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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LIMS2 |
LIM zinc finger domain containing 2 |
- Cell-extracellular matrix interactions
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LIN7A |
lin-7 homolog A, crumbs cell polarity complex component |
- Dopamine Neurotransmitter Release Cycle
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
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LINGO1 |
leucine rich repeat and Ig domain containing 1 |
- Axonal growth inhibition (RHOA activation)
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LMO1 |
LIM domain only 1 |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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LMO2 |
LIM domain only 2 |
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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LMO3 |
LIM domain only 3 |
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LMO4 |
LIM domain only 4 |
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LYPLA1 |
lysophospholipase 1 |
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LYSMD1 |
LysM domain containing 1 |
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MAB21L2 |
mab-21 like 2 |
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MAGOH |
mago homolog, exon junction complex subunit |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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MAGOHB |
mago homolog B, exon junction complex subunit |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Regulation of expression of SLITs and ROBOs
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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MBD3 |
methyl-CpG binding domain protein 3 |
- HDACs deacetylate histones
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Regulation of TP53 Activity through Acetylation
- RNA Polymerase I Transcription Initiation
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
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MCM10 |
minichromosome maintenance 10 replication initiation factor |
- Activation of ATR in response to replication stress
- Activation of the pre-replicative complex
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MCM7 |
minichromosome maintenance complex component 7 |
- Activation of ATR in response to replication stress
- Unwinding of DNA
- Assembly of the pre-replicative complex
- Orc1 removal from chromatin
- Activation of the pre-replicative complex
- Switching of origins to a post-replicative state
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MFAP1 |
microfibril associated protein 1 |
- Molecules associated with elastic fibres
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MID2 |
midline 2 |
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MNAT1 |
MNAT1 component of CDK activating kinase |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Tat-mediated elongation of the HIV-1 transcript
- NoRC negatively regulates rRNA expression
- Formation of Incision Complex in GG-NER
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A/B1/B2 associated events during G2/M transition
- Cyclin A:Cdk2-associated events at S phase entry
- mRNA Capping
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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MORF4L1 |
mortality factor 4 like 1 |
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MORF4L2 |
mortality factor 4 like 2 |
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MORN3 |
MORN repeat containing 3 |
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MOS |
MOS proto-oncogene, serine/threonine kinase |
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MSRB3 |
methionine sulfoxide reductase B3 |
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MTFR2 |
mitochondrial fission regulator 2 |
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MVP |
major vault protein |
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MYEF2 |
myelin expression factor 2 |
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NCF2 |
neutrophil cytosolic factor 2 |
- ROS and RNS production in phagocytes
- Cross-presentation of particulate exogenous antigens (phagosomes)
- Detoxification of Reactive Oxygen Species
- VEGFA-VEGFR2 Pathway
- RHO GTPases Activate NADPH Oxidases
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- Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
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NDE1 |
nudE neurodevelopment protein 1 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- 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
- RHO GTPases Activate Formins
- Mitotic Prometaphase
- AURKA Activation by TPX2
- EML4 and NUDC in mitotic spindle formation
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NDEL1 |
nudE neurodevelopment protein 1 like 1 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- RHO GTPases Activate Formins
- Mitotic Prometaphase
- EML4 and NUDC in mitotic spindle formation
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NDN |
necdin, MAGE family member |
- Interleukin-4 and Interleukin-13 signaling
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- Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS); Prader-Willi syndrome (PWS)
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NDUFA5 |
NADH:ubiquinone oxidoreductase subunit A5 |
- Respiratory electron transport
- Complex I biogenesis
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NEBL |
nebulette |
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NECAB2 |
N-terminal EF-hand calcium binding protein 2 |
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NEFL |
neurofilament light |
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
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NME7 |
NME/NM23 family member 7 |
- Recruitment of mitotic centrosome proteins and complexes
- Recruitment of NuMA to mitotic centrosomes
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NMRK1 |
nicotinamide riboside kinase 1 |
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NOS3 |
nitric oxide synthase 3 |
- ROS and RNS production in phagocytes
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- NOSIP mediated eNOS trafficking
- Nitric oxide stimulates guanylate cyclase
- VEGFR2 mediated vascular permeability
- Extra-nuclear estrogen signaling
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- L-Arginine
- L-Citrulline
- Sapropterin
- Miconazole
- N,N-dimethylarginine
- L-N(Omega)-Nitroarginine-2,4-L-Diaminobutyric Amide
- L-2-Amino-4-(Guanidinooxy)Butyric Acid
- 3-Bromo-7-Nitroindazole
- N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-Nitroguanidine
- N-(3-(Aminomethyl)Benzyl)Acetamidine
- 1,2,4-Triazole-Carboxamidine
- L-N(Omega)-Nitroarginine-(4r)-Amino-L-Proline Amide
- S,S'-(1,4-Phenylene-Bis(1,2-Ethanediyl))Bis-Isothiourea
- 7-Nitroindazole
- S-Ethylisothiourea
- 2-Aminothiazoline
- Se-Ethyl-Isoselenourea
- 2,4-Diamino-6-Phenyl-5,6,7,8,-Tetrahydropteridine
- N1,N14-Bis((S-Methyl)Isothioureido)Tetradecane
- Cacodylic acid
- 7-Nitroindazole-2-Carboxamidine
- 6-Nitroindazole
- N-Omega-Hydroxy-L-Arginine
- N5-Iminoethyl-L-Ornithine
- 5,6-Cyclic-Tetrahydropteridine
- S-Ethyl-N-Phenyl-Isothiourea
- S,S'-(1,3-Phenylene-Bis(1,2-Ethanediyl))Bis-Isothiourea
- 6S-5,6,7,8-Tetrahydrobiopterin
- S-(Dimethylarsenic)Cysteine
- L-Homoarginine
- S-Isopropyl-Isothiourea
- Nitroarginine
- 5-Nitroindazole
- N-(Chlorophenyl)-N'-Hydroxyguanidine
- Apremilast
- (3S,5E)-3-propyl-3,4-dihydrothieno[2,3-f][1,4]oxazepin-5(2H)-imine
- 5-{4-[(3,5-DIFLUOROBENZYL)AMINO]PHENYL}-6-ETHYLPYRIMIDINE-2,4-DIAMINE
- ETHYL 4-[(4-METHYLPYRIDIN-2-YL)AMINO]PIPERIDINE-1-CARBOXYLATE
- N-{(3S,4S)-4-[(6-AMINO-4-METHYLPYRIDIN-2-YL)METHYL]PYRROLIDIN-3-YL}-N'-(4-CHLOROBENZYL)ETHANE-1,2-DIAMINE
- N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine
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NOTCH1 |
notch receptor 1 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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NTAQ1 |
N-terminal glutamine amidase 1 |
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NUDT21 |
nudix hydrolase 21 |
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
- Processing of Intronless Pre-mRNAs
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NXT2 |
nuclear transport factor 2 like export factor 2 |
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ODF2 |
outer dense fiber of sperm tails 2 |
- 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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ORC1 |
origin recognition complex subunit 1 |
- E2F-enabled inhibition of pre-replication complex formation
- Activation of ATR in response to replication stress
- Assembly of the ORC complex at the origin of replication
- CDC6 association with the ORC:origin complex
- CDT1 association with the CDC6:ORC:origin complex
- Assembly of the pre-replicative complex
- Orc1 removal from chromatin
- Activation of the pre-replicative complex
- G1/S-Specific Transcription
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- Patella dysplasias, including: Small patella syndrome (SPS); Nail-patella syndrome; Ear-patella-short statute syndrome
|
PARD6B |
par-6 family cell polarity regulator beta |
- Tight junction interactions
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PATL1 |
PAT1 homolog 1, processing body mRNA decay factor |
- mRNA decay by 5' to 3' exoribonuclease
- mRNA decay by 5' to 3' exoribonuclease
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PCM1 |
pericentriolar material 1 |
- 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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PIAS2 |
protein inhibitor of activated STAT 2 |
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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PID1 |
phosphotyrosine interaction domain containing 1 |
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PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
- PI3K Cascade
- IRS-mediated signalling
- GPVI-mediated activation cascade
- PIP3 activates AKT signaling
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Synthesis of PIPs at the plasma membrane
- Downstream signal transduction
- Rho GTPase cycle
- PI3K/AKT activation
- Downstream TCR signaling
- Role of phospholipids in phagocytosis
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- DAP12 signaling
- Role of LAT2/NTAL/LAB on calcium mobilization
- Nephrin family interactions
- Costimulation by the CD28 family
- CD28 dependent PI3K/Akt signaling
- G alpha (q) signalling events
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- RET signaling
- Extra-nuclear estrogen signaling
- Interleukin receptor SHC signaling
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
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PIMREG |
PICALM interacting mitotic regulator |
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PIN1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
- ISG15 antiviral mechanism
- RHO GTPases Activate NADPH Oxidases
- Regulation of TP53 Activity through Phosphorylation
- PI5P Regulates TP53 Acetylation
- Negative regulators of DDX58/IFIH1 signaling
|
- Beta-(2-Naphthyl)-Alanine
- 3,6,9,12,15,18-HEXAOXAICOSANE
|
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PITX1 |
paired like homeodomain 1 |
|
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- Congenital clubfoot; Congenital talipes equinovarus
|
PKN1 |
protein kinase N1 |
- RHO GTPases activate PKNs
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
|
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PKP4 |
plakophilin 4 |
- Keratinization
- Formation of the cornified envelope
|
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PLAAT5 |
phospholipase A and acyltransferase 5 |
- Acyl chain remodelling of PE
|
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POLDIP3 |
DNA polymerase delta interacting protein 3 |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
|
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POM121 |
POM121 transmembrane nucleoporin |
- ISG15 antiviral mechanism
- Transport of the SLBP independent Mature mRNA
- Transport of the SLBP Dependant Mature mRNA
- Transport of Mature mRNA Derived from an Intronless Transcript
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- Rev-mediated nuclear export of HIV RNA
- Transport of Ribonucleoproteins into the Host Nucleus
- NS1 Mediated Effects on Host Pathways
- Viral Messenger RNA Synthesis
- NEP/NS2 Interacts with the Cellular Export Machinery
- Regulation of Glucokinase by Glucokinase Regulatory Protein
- Nuclear import of Rev protein
- Vpr-mediated nuclear import of PICs
- snRNP Assembly
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of ubiquitinylation proteins
- Nuclear Pore Complex (NPC) Disassembly
- Regulation of HSF1-mediated heat shock response
- SUMOylation of SUMOylation proteins
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA replication proteins
- SUMOylation of DNA replication proteins
- Transcriptional regulation by small RNAs
- Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
- tRNA processing in the nucleus
- HCMV Early Events
- HCMV Late Events
- Postmitotic nuclear pore complex (NPC) reformation
- Postmitotic nuclear pore complex (NPC) reformation
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PPP1R16B |
protein phosphatase 1 regulatory subunit 16B |
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PPP1R18 |
protein phosphatase 1 regulatory subunit 18 |
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PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Spry regulation of FGF signaling
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Integration of energy metabolism
- PP2A-mediated dephosphorylation of key metabolic factors
- DARPP-32 events
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- ERK/MAPK targets
- ERKs are inactivated
- MASTL Facilitates Mitotic Progression
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- Initiation of Nuclear Envelope (NE) Reformation
- CTLA4 inhibitory signaling
- Platelet sensitization by LDL
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Misspliced GSK3beta mutants stabilize beta-catenin
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- RHO GTPases Activate Formins
- RAF activation
- Negative regulation of MAPK pathway
- Regulation of TP53 Degradation
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Mitotic Prometaphase
- Cyclin D associated events in G1
- Cyclin A/B1/B2 associated events during G2/M transition
- Regulation of glycolysis by fructose 2,6-bisphosphate metabolism
- EML4 and NUDC in mitotic spindle formation
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
|
- Vitamin E
- 2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid
- (2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid
|
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PQBP1 |
polyglutamine binding protein 1 |
- mRNA Splicing - Major Pathway
|
|
- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Non-syndromic X-linked mental retardation
|
PRKAA1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
- Macroautophagy
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- Regulation of TP53 Activity through Phosphorylation
- Activation of AMPK downstream of NMDARs
|
- Adenosine monophosphate
- ATP
- Phenformin
- Acetylsalicylic acid
|
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PRKAB2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Macroautophagy
- AMPK inhibits chREBP transcriptional activation activity
- AMPK inhibits chREBP transcriptional activation activity
- Carnitine metabolism
- Activation of PPARGC1A (PGC-1alpha) by phosphorylation
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- Regulation of TP53 Activity through Phosphorylation
- Lipophagy
- Activation of AMPK downstream of NMDARs
|
- Adenosine monophosphate
- Acetylsalicylic acid
|
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PRPF31 |
pre-mRNA processing factor 31 |
- mRNA Splicing - Major Pathway
|
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- Retinitis pigmentosa (RP)
|
PSMA1 |
proteasome 20S subunit alpha 1 |
- Activation of NF-kappaB in B cells
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- ER-Phagosome pathway
- Cross-presentation of soluble exogenous antigens (endosomes)
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Separation of Sister Chromatids
- FCERI mediated NF-kB activation
- Autodegradation of the E3 ubiquitin ligase COP1
- Regulation of ornithine decarboxylase (ODC)
- ABC-family proteins mediated transport
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Hedgehog ligand biogenesis
- Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- NIK - noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAPK6/MAPK4 signaling
- UCH proteinases
- Ub-specific processing proteases
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- G2/M Checkpoints
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN stability and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
|
- (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
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PSMA4 |
proteasome 20S subunit alpha 4 |
- Activation of NF-kappaB in B cells
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- ER-Phagosome pathway
- Cross-presentation of soluble exogenous antigens (endosomes)
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Separation of Sister Chromatids
- FCERI mediated NF-kB activation
- Autodegradation of the E3 ubiquitin ligase COP1
- Regulation of ornithine decarboxylase (ODC)
- ABC-family proteins mediated transport
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Hedgehog ligand biogenesis
- Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- NIK - noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAPK6/MAPK4 signaling
- UCH proteinases
- Ub-specific processing proteases
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- G2/M Checkpoints
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN stability and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
|
- (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
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PTBP2 |
polypyrimidine tract binding protein 2 |
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
- Interleukin-6 signaling
- PI3K Cascade
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- GPVI-mediated activation cascade
- Prolactin receptor signaling
- PIP3 activates AKT signaling
- Spry regulation of FGF signaling
- Signaling by SCF-KIT
- GAB1 signalosome
- Downstream signal transduction
- PECAM1 interactions
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signaling by Leptin
- Costimulation by the CD28 family
- CTLA4 inhibitory signaling
- PD-1 signaling
- Signal regulatory protein family interactions
- Netrin mediated repulsion signals
- Platelet sensitization by LDL
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- FRS-mediated FGFR2 signaling
- FRS-mediated FGFR3 signaling
- PI-3K cascade:FGFR3
- FRS-mediated FGFR4 signaling
- PI-3K cascade:FGFR4
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Regulation of IFNG signaling
- RET signaling
- Interleukin-20 family signaling
- MET activates PTPN11
- Regulation of RUNX1 Expression and Activity
- Interleukin-37 signaling
- Activated NTRK2 signals through FRS2 and FRS3
- Interferon alpha/beta signaling
- Regulation of IFNA signaling
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- FLT3 Signaling
- STAT5 Activation
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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)
- Metachondromatosis
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RAB1A |
RAB1A, member RAS oncogene family |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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RAB1B |
RAB1B, member RAS oncogene family |
- Golgi Cisternae Pericentriolar Stack Reorganization
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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RAB2A |
RAB2A, member RAS oncogene family |
- Golgi Cisternae Pericentriolar Stack Reorganization
- RAB geranylgeranylation
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RAB2B |
RAB2B, member RAS oncogene family |
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RAB33B |
RAB33B, member RAS oncogene family |
- Intra-Golgi traffic
- TBC/RABGAPs
- RAB geranylgeranylation
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RAB39A |
RAB39A, member RAS oncogene family |
- Intra-Golgi traffic
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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RAB39B |
RAB39B, member RAS oncogene family |
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
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RAB6A |
RAB6A, member RAS oncogene family |
- Pre-NOTCH Processing in Golgi
- Neutrophil degranulation
- COPI-independent Golgi-to-ER retrograde traffic
- Retrograde transport at the Trans-Golgi-Network
- TBC/RABGAPs
- RAB geranylgeranylation
- RAB GEFs exchange GTP for GDP on RABs
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RBL1 |
RB transcriptional corepressor like 1 |
- Transcription of E2F targets under negative control by DREAM complex
- Transcription of E2F targets under negative control by DREAM complex
- Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
- G0 and Early G1
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- G1/S-Specific Transcription
- Cyclin D associated events in G1
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RBM17 |
RNA binding motif protein 17 |
- mRNA Splicing - Major Pathway
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RBM39 |
RNA binding motif protein 39 |
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RBM41 |
RNA binding motif protein 41 |
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RCOR3 |
REST corepressor 3 |
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RGS8 |
regulator of G protein signaling 8 |
- G alpha (i) signalling events
- G alpha (i) signalling events
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RHNO1 |
RAD9-HUS1-RAD1 interacting nuclear orphan 1 |
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
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RIBC1 |
RIB43A domain with coiled-coils 1 |
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RITA1 |
RBPJ interacting and tubulin associated 1 |
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RNF135 |
ring finger protein 135 |
- DDX58/IFIH1-mediated induction of interferon-alpha/beta
- Ovarian tumor domain proteases
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- TRAF6 mediated NF-kB activation
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- Negative regulators of DDX58/IFIH1 signaling
- Negative regulators of DDX58/IFIH1 signaling
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RNF213 |
ring finger protein 213 |
- Suppression of apoptosis
- Antigen processing: Ubiquitination & Proteasome degradation
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RNF214 |
ring finger protein 214 |
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RNF6 |
ring finger protein 6 |
- Antigen processing: Ubiquitination & Proteasome degradation
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RSPH14 |
radial spoke head 14 homolog |
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RSRC2 |
arginine and serine rich coiled-coil 2 |
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RTP5 |
receptor transporter protein 5 (putative) |
- Olfactory Signaling Pathway
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RUSC2 |
RUN and SH3 domain containing 2 |
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RXRB |
retinoid X receptor beta |
- PPARA activates gene expression
- Nuclear Receptor transcription pathway
- Signaling by Retinoic Acid
- NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake
- NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
- NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis
- NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
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- Adapalene
- Bexarotene
- Rosiglitazone
- Acitretin
- Alitretinoin
- Tretinoin
- Tazarotene
- Etretinate
- Bezafibrate
- 6-[1-(3,5,5,8,8-Pentamethyl-5,6,7,8-Tetrahydronaphthalen-2-Yl)Cyclopropyl]Pyridine-3-Carboxylic Acid
- Phthalic Acid
- Doconexent
- N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE
- N-(TERT-BUTYL)-3,5-DIMETHYL-N'-[(5-METHYL-2,3-DIHYDRO-1,4-BENZODIOXIN-6-YL)CARBONYL]BENZOHYDRAZIDE
- (2E,4E)-11-METHOXY-3,7,11-TRIMETHYLDODECA-2,4-DIENOIC ACID
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SAMD4A |
sterile alpha motif domain containing 4A |
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SAP30BP |
SAP30 binding protein |
- NoRC negatively regulates rRNA expression
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SCAF8 |
SR-related CTD associated factor 8 |
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SCEL |
sciellin |
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SCNM1 |
sodium channel modifier 1 |
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SECISBP2 |
SECIS binding protein 2 |
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SELENOV |
selenoprotein V |
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SFI1 |
SFI1 centrin binding protein |
- 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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SH2D3C |
SH2 domain containing 3C |
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SH2D4A |
SH2 domain containing 4A |
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SH3GLB2 |
SH3 domain containing GRB2 like, endophilin B2 |
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SH3RF2 |
SH3 domain containing ring finger 2 |
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SHC3 |
SHC adaptor protein 3 |
- Signalling to RAS
- Signalling to RAS
- RAF/MAP kinase cascade
- RET signaling
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SLU7 |
SLU7 homolog, splicing factor |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
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SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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SMCP |
sperm mitochondria associated cysteine rich protein |
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SNAP47 |
synaptosome associated protein 47 |
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SNF8 |
SNF8 subunit of ESCRT-II |
- Endosomal Sorting Complex Required For Transport (ESCRT)
- HCMV Late Events
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
- SLBP independent Processing of Histone Pre-mRNAs
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- RNA Polymerase II Transcription Termination
- SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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SNRPB2 |
small nuclear ribonucleoprotein polypeptide B2 |
- mRNA Splicing - Major Pathway
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SNRPC |
small nuclear ribonucleoprotein polypeptide C |
- mRNA Splicing - Major Pathway
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SNTA1 |
syntrophin alpha 1 |
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- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
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SNW1 |
SNW domain containing 1 |
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- mRNA Splicing - Major Pathway
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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SPATA2 |
spermatogenesis associated 2 |
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SPATA22 |
spermatogenesis associated 22 |
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SRSF2 |
serine and arginine rich splicing factor 2 |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- mRNA 3'-end processing
- RNA Polymerase II Transcription Termination
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SSX2IP |
SSX family member 2 interacting protein |
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STAMBPL1 |
STAM binding protein like 1 |
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STK25 |
serine/threonine kinase 25 |
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STK26 |
serine/threonine kinase 26 |
- Apoptotic cleavage of cellular proteins
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- [4-({4-[(5-CYCLOPROPYL-1H-PYRAZOL-3-YL)AMINO]QUINAZOLIN-2-YL}IMINO)CYCLOHEXA-2,5-DIEN-1-YL]ACETONITRILE
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STN1 |
STN1 subunit of CST complex |
- Telomere C-strand synthesis initiation
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SUPT5H |
SPT5 homolog, DSIF elongation factor subunit |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Pausing and recovery of Tat-mediated HIV elongation
- Abortive elongation of HIV-1 transcript in the absence of Tat
- Tat-mediated HIV elongation arrest and recovery
- Tat-mediated elongation of the HIV-1 transcript
- HIV elongation arrest and recovery
- Pausing and recovery of HIV elongation
- RNA Polymerase II Pre-transcription Events
- TP53 Regulates Transcription of DNA Repair Genes
- RNA polymerase II transcribes snRNA genes
- mRNA Capping
- RNA Polymerase II Transcription Elongation
- RNA Pol II CTD phosphorylation and interaction with CE
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SYT6 |
synaptotagmin 6 |
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TBC1D22B |
TBC1 domain family member 22B |
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TBP |
TATA-box binding protein |
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- SIRT1 negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- RNA Polymerase II Pre-transcription Events
- Regulation of TP53 Activity through Phosphorylation
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- Estrogen-dependent gene expression
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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TCEA2 |
transcription elongation factor A2 |
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TCEANC |
transcription elongation factor A N-terminal and central domain containing |
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TCF19 |
transcription factor 19 |
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TCL1A |
T cell leukemia/lymphoma 1A |
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TDP2 |
tyrosyl-DNA phosphodiesterase 2 |
- Nonhomologous End-Joining (NHEJ)
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TEAD4 |
TEA domain transcription factor 4 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- RUNX3 regulates YAP1-mediated transcription
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TEX9 |
testis expressed 9 |
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TFAP4 |
transcription factor AP-4 |
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TFIP11 |
tuftelin interacting protein 11 |
- mRNA Splicing - Major Pathway
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THAP7 |
THAP domain containing 7 |
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THYN1 |
thymocyte nuclear protein 1 |
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TLE5 |
TLE family member 5, transcriptional modulator |
- Repression of WNT target genes
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TMED2 |
transmembrane p24 trafficking protein 2 |
- Pre-NOTCH Processing in Golgi
- COPII-mediated vesicle transport
- Cargo concentration in the ER
- COPI-mediated anterograde transport
- COPI-dependent Golgi-to-ER retrograde traffic
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TPM1 |
tropomyosin 1 |
- Striated Muscle Contraction
- Smooth Muscle Contraction
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- Artenimol
- Phenethyl Isothiocyanate
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- Hypertrophic cardiomyopathy (HCM)
- Dilated cardiomyopathy (DCM)
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TPX2 |
TPX2 microtubule nucleation factor |
- Regulation of TP53 Activity through Phosphorylation
- AURKA Activation by TPX2
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TRAF1 |
TNF receptor associated factor 1 |
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
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TRAF3IP2 |
TRAF3 interacting protein 2 |
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TRAF4 |
TNF receptor associated factor 4 |
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TRAF5 |
TNF receptor associated factor 5 |
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TRIM29 |
tripartite motif containing 29 |
- Interferon gamma signaling
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TRIM42 |
tripartite motif containing 42 |
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TSC22D4 |
TSC22 domain family member 4 |
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TSSC4 |
tumor suppressing subtransferable candidate 4 |
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TSSK3 |
testis specific serine kinase 3 |
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TTC23 |
tetratricopeptide repeat domain 23 |
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TTC25 |
tetratricopeptide repeat domain 25 |
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TTC9C |
tetratricopeptide repeat domain 9C |
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TUBGCP4 |
tubulin gamma complex associated protein 4 |
- Recruitment of mitotic centrosome proteins and complexes
- Recruitment of NuMA to mitotic centrosomes
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TXLNA |
taxilin alpha |
- Other interleukin signaling
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UBE2H |
ubiquitin conjugating enzyme E2 H |
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Antigen processing: Ubiquitination & Proteasome degradation
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UBE2I |
ubiquitin conjugating enzyme E2 I |
- Meiotic synapsis
- Vitamin D (calciferol) metabolism
- SUMO is transferred from E1 to E2 (UBE2I, UBC9)
- SUMO is transferred from E1 to E2 (UBE2I, UBC9)
- SUMOylation of DNA damage response and repair proteins
- SUMO E3 ligases SUMOylate target proteins
- SUMOylation of transcription factors
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- SUMOylation of transcription cofactors
- SUMOylation of transcription cofactors
- SUMOylation of SUMOylation proteins
- SUMOylation of intracellular receptors
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA replication proteins
- SUMOylation of DNA replication proteins
- SUMOylation of DNA methylation proteins
- SUMOylation of DNA methylation proteins
- SUMOylation of immune response proteins
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Processing of DNA double-strand break ends
- Formation of Incision Complex in GG-NER
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Negative regulation of activity of TFAP2 (AP-2) family transcription factors
- Postmitotic nuclear pore complex (NPC) reformation
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UBE2U |
ubiquitin conjugating enzyme E2 U |
- Antigen processing: Ubiquitination & Proteasome degradation
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UBE3C |
ubiquitin protein ligase E3C |
- Antigen processing: Ubiquitination & Proteasome degradation
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USO1 |
USO1 vesicle transport factor |
- Golgi Cisternae Pericentriolar Stack Reorganization
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
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USP2 |
ubiquitin specific peptidase 2 |
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- Ub-specific processing proteases
- Regulation of TP53 Degradation
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UTP14C |
UTP14C small subunit processome component |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
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VPS28 |
VPS28 subunit of ESCRT-I |
- Budding and maturation of HIV virion
- Membrane binding and targetting of GAG proteins
- Endosomal Sorting Complex Required For Transport (ESCRT)
- HCMV Late Events
- Late endosomal microautophagy
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VPS37C |
VPS37C subunit of ESCRT-I |
- Budding and maturation of HIV virion
- Membrane binding and targetting of GAG proteins
- Endosomal Sorting Complex Required For Transport (ESCRT)
- HCMV Late Events
- Late endosomal microautophagy
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WASHC3 |
WASH complex subunit 3 |
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WT1 |
WT1 transcription factor |
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- Nephrotic syndrome and focal segmental glomerulosclerosis
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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XIAP |
X-linked inhibitor of apoptosis |
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- SMAC, XIAP-regulated apoptotic response
- Deactivation of the beta-catenin transactivating complex
- RIPK1-mediated regulated necrosis
- Regulation of TNFR1 signaling
- TNFR1-induced NFkappaB signaling pathway
- Regulation of necroptotic cell death
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Regulation of the apoptosome activity
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- 1-[3,3-Dimethyl-2-(2-Methylamino-Propionylamino)-Butyryl]-Pyrrolidine-2-Carboxylic Acid(1,2,3,4-Tetrahydro-Naphthalen-1-Yl)-Amide
- Dequalinium
- N-METHYLALANYL-3-METHYLVALYL-4-PHENOXY-N-(1,2,3,4-TETRAHYDRONAPHTHALEN-1-YL)PROLINAMIDE
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
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YJU2 |
YJU2 splicing factor homolog |
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YTHDC1 |
YTH domain containing 1 |
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ZBTB16 |
zinc finger and BTB domain containing 16 |
- Neddylation
- Antigen processing: Ubiquitination & Proteasome degradation
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- Skeletal defects, genital hypoplasia, and mental retardation
- Acute myeloid leukemia (AML)
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ZER1 |
zyg-11 related cell cycle regulator |
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ZFC3H1 |
zinc finger C3H1-type containing |
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ZFP2 |
ZFP2 zinc finger protein |
- Generic Transcription Pathway
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ZFYVE26 |
zinc finger FYVE-type containing 26 |
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- Hereditary spastic paraplegia (SPG)
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ZG16B |
zymogen granule protein 16B |
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ZGPAT |
zinc finger CCCH-type and G-patch domain containing |
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ZMAT1 |
zinc finger matrin-type 1 |
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ZMAT2 |
zinc finger matrin-type 2 |
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ZNF124 |
zinc finger protein 124 |
- Generic Transcription Pathway
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ZNF250 |
zinc finger protein 250 |
- Generic Transcription Pathway
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ZNF410 |
zinc finger protein 410 |
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ZNF414 |
zinc finger protein 414 |
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ZNF417 |
zinc finger protein 417 |
- Generic Transcription Pathway
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ZNF488 |
zinc finger protein 488 |
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ZNF572 |
zinc finger protein 572 |
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ZNF581 |
zinc finger protein 581 |
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ZNF587 |
zinc finger protein 587 |
- Generic Transcription Pathway
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ZNF594 |
zinc finger protein 594 |
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ZNF688 |
zinc finger protein 688 |
- Generic Transcription Pathway
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ZNF774 |
zinc finger protein 774 |
- Generic Transcription Pathway
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