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NEFM |
neurofilament medium |
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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
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PA2G4 |
proliferation-associated 2G4 |
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PAX2 |
paired box 2 |
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- Renal coloboma syndrome (RCS); Papillorenal syndrome
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PAX5 |
paired box 5 |
- RUNX1 regulates transcription of genes involved in BCR signaling
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- Lymphoplasmacytic lymphoma
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PAX6 |
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
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PELP1 |
proline, glutamate and leucine rich protein 1 |
- Major pathway of rRNA processing in the nucleolus and cytosol
- PTK6 Expression
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PLA2G12A |
phospholipase A2 group XIIA |
- Acyl chain remodelling of PC
- Acyl chain remodelling of PS
- Acyl chain remodelling of PE
- Acyl chain remodelling of PI
- Acyl chain remodelling of PG
- Synthesis of PA
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PPP1CB |
protein phosphatase 1 catalytic subunit beta |
- Triglyceride catabolism
- Downregulation of TGF-beta receptor signaling
- Regulation of PLK1 Activity at G2/M Transition
- Circadian Clock
- RHO GTPases activate PKNs
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases Activate ROCKs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- RAF activation
- Signaling by MRAS-complex mutants
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PPP1R26 |
protein phosphatase 1 regulatory subunit 26 |
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PRDM2 |
PR/SET domain 2 |
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PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
- MicroRNA (miRNA) biogenesis
- Small interfering RNA (siRNA) biogenesis
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- Primary torsion dystonia (PTD)
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PRMT2 |
protein arginine methyltransferase 2 |
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PSMD10 |
proteasome 26S subunit, non-ATPase 10 |
- 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 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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PURA |
purine rich element binding protein A |
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RABGAP1L |
RAB GTPase activating protein 1 like |
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RASA1 |
RAS p21 protein activator 1 |
- Downstream signal transduction
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- VEGFR2 mediated cell proliferation
- Regulation of RAS by GAPs
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
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- RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
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RBAK |
RB associated KRAB zinc finger |
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RBBP4 |
RB binding protein 4, chromatin remodeling factor |
- 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
- Polo-like kinase mediated events
- PRC2 methylates histones and DNA
- Oxidative Stress Induced Senescence
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Deposition of new CENPA-containing nucleosomes at the centromere
- Regulation of TP53 Activity through Acetylation
- Cyclin E associated events during G1/S transition
- G1/S-Specific Transcription
- Cyclin A:Cdk2-associated events at S phase entry
- RNA Polymerase I Transcription Initiation
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
- HCMV Early Events
- Potential therapeutics for SARS
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RBBP5 |
RB binding protein 5, 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
- Neddylation
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