Novel |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
- Defective B3GALTL causes Peters-plus syndrome (PpS)
- O-glycosylation of TSR domain-containing proteins
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- Thrombotic thrombocytopenic purpura; Moschcowitz disease; Schulman-Upshaw syndrome
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Novel |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2
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- Congenital disorders of glycosylation (CDG) type I
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Novel |
IGFBP3 |
insulin like growth factor binding protein 3 |
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- TP53 Regulates Transcription of Death Receptors and Ligands
- Post-translational protein phosphorylation
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Novel |
MAN1B1 |
mannosidase alpha class 1B member 1 |
- Defective MAN1B1 causes MRT15
- ER Quality Control Compartment (ERQC)
- Maturation of spike protein
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- 1,4-Butanediol
- Methyl-2-S-(Alpha-D-Mannopyranosyl)-2-Thio-Alpha-D-Mannopyranoside
- Kifunensine
- Duvoglustat
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Novel |
NELFB |
negative elongation factor complex member B |
- 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
- 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 Transcription Elongation
- NTRK3 as a dependence receptor
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Novel |
NOTCH2 |
notch receptor 2 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- NOTCH2 intracellular domain regulates transcription
- NOTCH2 intracellular domain regulates transcription
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- NOTCH4 Intracellular Domain Regulates Transcription
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- Alagille syndrome
- Type II diabetes mellitus
- Hajdu-Cheney syndrome
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Novel |
SPACA9 |
sperm acrosome associated 9 |
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ANAPC2 |
anaphase promoting complex subunit 2 |
- Inactivation of APC/C via direct inhibition of the APC/C complex
- APC/C:Cdc20 mediated degradation of Cyclin B
- Autodegradation of Cdh1 by Cdh1:APC/C
- 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
- Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
- Regulation of APC/C activators between G1/S and early anaphase
- APC/C:Cdc20 mediated degradation of mitotic proteins
- Phosphorylation of the APC/C
- APC-Cdc20 mediated degradation of Nek2A
- Separation of Sister Chromatids
- Senescence-Associated Secretory Phenotype (SASP)
- CDK-mediated phosphorylation and removal of Cdc6
- Transcriptional Regulation by VENTX
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Antigen processing: Ubiquitination & Proteasome degradation
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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ATN1 |
atrophin 1 |
- Regulation of PTEN gene transcription
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- Dentatorubropallidoluysian atrophy (DRPLA)
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BBC3 |
BCL2 binding component 3 |
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- FOXO-mediated transcription of cell death genes
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BHLHE41 |
basic helix-loop-helix family member e41 |
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Circadian Clock
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CHD8 |
chromodomain helicase DNA binding protein 8 |
- Deactivation of the beta-catenin transactivating complex
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FAM199X |
family with sequence similarity 199, X-linked |
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H1-2 |
H1.2 linker histone, cluster member |
- Apoptosis induced DNA fragmentation
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
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H3-4 |
H3.4 histone |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- Condensation of Prophase Chromosomes
- DNA Damage/Telomere Stress Induced Senescence
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- G2/M DNA damage checkpoint
- Meiotic recombination
- Inhibition of DNA recombination at telomere
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H3C1 |
H3 clustered histone 1 |
- Interleukin-7 signaling
- Interleukin-7 signaling
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- HDMs demethylate histones
- HATs acetylate histones
- HATs acetylate histones
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Amyloid fiber formation
- Factors involved in megakaryocyte development and platelet production
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H4-16 |
H4 histone 16 |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- HDMs demethylate histones
- HATs acetylate histones
- HATs acetylate histones
- RMTs methylate histone arginines
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- SUMOylation of chromatin organization proteins
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- Deposition of new CENPA-containing nucleosomes at the centromere
- G2/M DNA damage checkpoint
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Inhibition of DNA recombination at telomere
- Amyloid fiber formation
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HSF2 |
heat shock transcription factor 2 |
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