CDC42EP4 |
CDC42 effector protein 4 |
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CLCN2 |
chloride voltage-gated channel 2 |
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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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DDR1 |
discoidin domain receptor tyrosine kinase 1 |
- Non-integrin membrane-ECM interactions
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E2F1 |
E2F transcription factor 1 |
- Activation of NOXA and translocation to mitochondria
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- 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
- Activation of PUMA and translocation to mitochondria
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- CDC6 association with the ORC:origin complex
- G2 Phase
- Cyclin E associated events during G1/S transition
- G1/S-Specific Transcription
- G1/S-Specific Transcription
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional Regulation by E2F6
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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E2F2 |
E2F transcription factor 2 |
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- CDC6 association with the ORC:origin complex
- Cyclin D associated events in G1
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ECEL1 |
endothelin converting enzyme like 1 |
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H2BC21 |
H2B clustered histone 21 |
- 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
- HATs acetylate histones
- HATs acetylate histones
- 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
- Ub-specific processing proteases
- 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
- Amyloid fiber formation
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H2BU1 |
H2B.U histone 1 |
- 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
- HATs acetylate histones
- HATs acetylate histones
- 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
- Ub-specific processing proteases
- 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
- Amyloid fiber formation
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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
- Amyloid fiber formation
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HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
- Downstream TCR signaling
- Phosphorylation of CD3 and TCR zeta chains
- Translocation of ZAP-70 to Immunological synapse
- Generation of second messenger molecules
- MHC class II antigen presentation
- PD-1 signaling
- Interferon gamma signaling
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- Type I diabetes mellitus
- Dilated cardiomyopathy (DCM)
- Graves' disease
- Systemic lupus erythematosus
- Hashimoto's thyroiditis
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HOXC6 |
homeobox C6 |
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PHF1 |
PHD finger protein 1 |
- PRC2 methylates histones and DNA
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PRNP |
prion protein |
- NCAM1 interactions
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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- Prion diseases; Creutzfeldt-Jacob disease (CJD); Gerstmann-Straussler disease (GSD); Gerstmann-Straussler-Scheinker disease (GSSD); Fatal familial insomnia (FFI)
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PSMB9 |
proteasome 20S subunit beta 9 |
- 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
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RAC2 |
Rac family small GTPase 2 |
- GPVI-mediated activation cascade
- ROS and RNS production in phagocytes
- PIP3 activates AKT signaling
- Rho GTPase cycle
- Constitutive Signaling by Aberrant PI3K in Cancer
- PCP/CE pathway
- RHO GTPases Activate NADPH Oxidases
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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- Leukocyte adhesion deficiency (LAD), including the following four diseases: Leukocyte adhesion deficiency (I); Leukocyte adhesion deficiency (II); Leukocyte adhesion deficiency (III); LAD with Rac2 deficiency
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SPOP |
speckle type BTB/POZ protein |
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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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