ANXA7 |
annexin A7 |
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APH1A |
aph-1 homolog A, gamma-secretase subunit |
- Nuclear signaling by ERBB4
- Regulated proteolysis of p75NTR
- NRIF signals cell death from the nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- EPH-ephrin mediated repulsion of cells
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Noncanonical activation of NOTCH3
- Amyloid fiber formation
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ARL3 |
ADP ribosylation factor like GTPase 3 |
- Trafficking of myristoylated proteins to the cilium
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- 2-(N-Morpholino)-Ethanesulfonic Acid
- Guanosine-5'-Diphosphate
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ARL4D |
ADP ribosylation factor like GTPase 4D |
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ATN1 |
atrophin 1 |
- Regulation of PTEN gene transcription
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- Dentatorubropallidoluysian atrophy (DRPLA)
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BARHL1 |
BarH like homeobox 1 |
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BCL2L1 |
BCL2 like 1 |
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-4 and Interleukin-13 signaling
- The NLRP1 inflammasome
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- 4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID
- Gossypol
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BID |
BH3 interacting domain death agonist |
- Activation of BAD and translocation to mitochondria
- Activation and oligomerization of BAK protein
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Activation, translocation and oligomerization of BAX
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation, myristolyation of BID and translocation to mitochondria
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BTBD2 |
BTB domain containing 2 |
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CCL18 |
C-C motif chemokine ligand 18 |
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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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CDKN1A |
cyclin dependent kinase inhibitor 1A |
- SCF(Skp2)-mediated degradation of p27/p21
- AKT phosphorylates targets in the cytosol
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- Transcriptional regulation by RUNX2
- RUNX3 regulates CDKN1A transcription
- Transcriptional regulation of granulopoiesis
- FOXO-mediated transcription of cell cycle genes
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CDKN2C |
cyclin dependent kinase inhibitor 2C |
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
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CELF3 |
CUGBP Elav-like family member 3 |
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CRCT1 |
cysteine rich C-terminal 1 |
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CSNK2B |
casein kinase 2 beta |
- Synthesis of PC
- WNT mediated activation of DVL
- Condensation of Prometaphase Chromosomes
- Signal transduction by L1
- Neutrophil degranulation
- Regulation of TP53 Activity through Phosphorylation
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- Receptor Mediated Mitophagy
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN stability and activity
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CTNNB1 |
catenin beta 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- 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
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
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DAZAP2 |
DAZ associated protein 2 |
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DLEU1 |
deleted in lymphocytic leukemia 1 |
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DNAH5 |
dynein axonemal heavy chain 5 |
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- Primary ciliary dyskinesia, including: Primary ciliary dyskinesia; Kartagener syndrome
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EIF2S2 |
eukaryotic translation initiation factor 2 subunit beta |
- L13a-mediated translational silencing of Ceruloplasmin expression
- PERK regulates gene expression
- PERK regulates gene expression
- ABC-family proteins mediated transport
- Translation initiation complex formation
- 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
- Recycling of eIF2:GDP
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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EN1 |
engrailed homeobox 1 |
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ERH |
ERH mRNA splicing and mitosis factor |
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ESRRG |
estrogen related receptor gamma |
- Nuclear Receptor transcription pathway
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- Troglitazone
- Diethylstilbestrol
- Tamoxifen
- Estradiol
- Cholic Acid
- Afimoxifene
- 4-HYDROXY-N'-(4-ISOPROPYLBENZYL)BENZOHYDRAZIDE
- 4-(1-methyl-1-phenylethyl)phenol
- 4,4'-PROPANE-2,2-DIYLDIPHENOL
- 4,4'-cyclohexane-1,1-diyldiphenol
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FOXA1 |
forkhead box A1 |
- Estrogen-dependent gene expression
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FOXA2 |
forkhead box A2 |
- Regulation of gene expression in beta cells
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FOXA3 |
forkhead box A3 |
- Regulation of gene expression in beta cells
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FOXG1 |
forkhead box G1 |
- Regulation of MECP2 expression and activity
- FOXO-mediated transcription of cell cycle genes
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FUBP1 |
far upstream element binding protein 1 |
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FXYD6 |
FXYD domain containing ion transport regulator 6 |
- Ion homeostasis
- Ion transport by P-type ATPases
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GADD45A |
growth arrest and DNA damage inducible alpha |
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- FOXO-mediated transcription of cell cycle genes
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GKAP1 |
G kinase anchoring protein 1 |
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GOLM1 |
golgi membrane protein 1 |
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
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GRB7 |
growth factor receptor bound protein 7 |
- GRB7 events in ERBB2 signaling
- Signaling by SCF-KIT
- Downstream signal transduction
- Tie2 Signaling
- RET signaling
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GSK3B |
glycogen synthase kinase 3 beta |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- AKT phosphorylates targets in the cytosol
- Regulation of HSF1-mediated heat shock response
- CRMPs in Sema3A signaling
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- B-WICH complex positively regulates rRNA expression
- 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
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Constitutive Signaling by AKT1 E17K in Cancer
- Ubiquitin-dependent degradation of Cyclin D
- Regulation of RUNX2 expression and activity
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- Lithium
- 3-[3-(2,3-Dihydroxy-Propylamino)-Phenyl]-4-(5-Fluoro-1-Methyl-1h-Indol-3-Yl)-Pyrrole-2,5-Dione
- SB-409513
- N-(4-Methoxybenzyl)-N'-(5-Nitro-1,3-Thiazol-2-Yl)Urea
- Staurosporine
- Indirubin-3'-Monoxime
- (3e)-6'-Bromo-2,3'-Biindole-2',3(1h,1'h)-Dione 3-Oxime
- Alsterpaullone
- Phosphoaminophosphonic Acid-Adenylate Ester
- 2-(1,3-benzodioxol-5-yl)-5-[(3-fluoro-4-methoxybenzyl)sulfanyl]-1,3,4-oxadiazole
- 5-[1-(4-methoxyphenyl)-1H-benzimidazol-6-yl]-1,3,4-oxadiazole-2(3H)-thione
- (7S)-2-(2-aminopyrimidin-4-yl)-7-(2-fluoroethyl)-1,5,6,7-tetrahydro-4H-pyrrolo[3,2-c]pyridin-4-one
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
- 3-({[(3S)-3,4-dihydroxybutyl]oxy}amino)-1H,2'H-2,3'-biindol-2'-one
- N-[(1S)-2-amino-1-phenylethyl]-5-(1H-pyrrolo[2,3-b]pyridin-4-yl)thiophene-2-carboxamide
- 4-(4-CHLOROPHENYL)-4-[4-(1H-PYRAZOL-4-YL)PHENYL]PIPERIDINE
- ISOQUINOLINE-5-SULFONIC ACID (2-(2-(4-CHLOROBENZYLOXY)ETHYLAMINO)ETHYL)AMIDE
- (2S)-1-(1H-INDOL-3-YL)-3-{[5-(3-METHYL-1H-INDAZOL-5-YL)PYRIDIN-3-YL]OXY}PROPAN-2-AMINE
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GSTM4 |
glutathione S-transferase mu 4 |
- Glutathione conjugation
- Biosynthesis of maresin conjugates in tissue regeneration (MCTR)
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- Glutathione
- Glutathione Sulfonic Acid
- S-Octylglutathione
- Gamma-Glutamyl[S-(2-Iodobenzyl)Cysteinyl]Glycine
- 1-Hydroxy-2-S-Glutathionyl-3-Para-Nitrophenoxy-Propane
- S-Hexylglutathione
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HES1 |
hes family bHLH transcription factor 1 |
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- 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
- RUNX2 regulates osteoblast differentiation
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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HES6 |
hes family bHLH transcription factor 6 |
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HESX1 |
HESX homeobox 1 |
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- Septo-optic dysplasia
- 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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HHEX |
hematopoietically expressed homeobox |
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- Type II diabetes mellitus
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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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HMGB1 |
high mobility group box 1 |
- Apoptosis induced DNA fragmentation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Regulation of TLR by endogenous ligand
- Neutrophil degranulation
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- TRAF6 mediated NF-kB activation
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HNF1A |
HNF1 homeobox A |
- Regulation of gene expression in beta cells
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- Maturity onset diabetes of the young (MODY)
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HSPE1 |
heat shock protein family E (Hsp10) member 1 |
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IL6ST |
interleukin 6 signal transducer |
- Interleukin-6 signaling
- Interleukin-6 signaling
- IL-6-type cytokine receptor ligand interactions
- Interleukin-35 Signalling
- Interleukin-27 signaling
- Interleukin-27 signaling
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KDM6A |
lysine demethylase 6A |
- HDMs demethylate histones
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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KIAA0408 |
KIAA0408 |
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KIF27 |
kinesin family member 27 |
- COPI-dependent Golgi-to-ER retrograde traffic
- Kinesins
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LEF1 |
lymphoid enhancer binding factor 1 |
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- Deactivation of the beta-catenin transactivating complex
- Ca2+ pathway
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Repression of WNT target genes
- Repression of WNT target genes
- Transcriptional Regulation by VENTX
- RUNX3 regulates WNT signaling
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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MORF4L2 |
mortality factor 4 like 2 |
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MPHOSPH6 |
M-phase phosphoprotein 6 |
- Major pathway of rRNA processing in the nucleolus and cytosol
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MSX1 |
msh homeobox 1 |
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Tooth agenesis; Hypodontia
- Tooth and nail syndrome; Witkop syndrome
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MSX2 |
msh homeobox 2 |
- Regulation of RUNX2 expression and activity
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- Enlarged parietal foramina/cranium bifidum
- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
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NKX2-5 |
NK2 homeobox 5 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- Physiological factors
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- Atrial septal defect
- Tetralogy of Fallot
- Congenital nongoitrous hypothyroidism (CHNG)
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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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PAFAH1B3 |
platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
- COPI-independent Golgi-to-ER retrograde traffic
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- (1R)-1,2,2-trimethylpropyl (R)-methylphosphinate
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PAX9 |
paired box 9 |
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- Tooth agenesis; Hypodontia
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PCDHA4 |
protocadherin alpha 4 |
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PEX2 |
peroxisomal biogenesis factor 2 |
- E3 ubiquitin ligases ubiquitinate target proteins
- Peroxisomal protein import
- Peroxisomal protein import
- Class I peroxisomal membrane protein import
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- Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
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PFN1 |
profilin 1 |
- Platelet degranulation
- Signaling by ROBO receptors
- PCP/CE pathway
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
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- 7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN
- Artenimol
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POLB |
DNA polymerase beta |
- POLB-Dependent Long Patch Base Excision Repair
- Resolution of AP sites via the multiple-nucleotide patch replacement pathway
- Resolution of AP sites via the single-nucleotide replacement pathway
- APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
- PCNA-Dependent Long Patch Base Excision Repair
- Ub-specific processing proteases
- Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
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- Cytarabine
- Iron
- dATP
- (1S)-1,2,3,4-TETRAHYDRO-BENZO[C]PHENANTHRENE-2,3,4-TRIOL
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POLE2 |
DNA polymerase epsilon 2, accessory subunit |
- Recognition of DNA damage by PCNA-containing replication complex
- PCNA-Dependent Long Patch Base Excision Repair
- Termination of translesion DNA synthesis
- HDR through Homologous Recombination (HRR)
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Dual Incision in GG-NER
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- DNA replication initiation
- Activation of the pre-replicative complex
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PRDM1 |
PR/SET domain 1 |
- Regulation of TP53 Expression
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PSMD11 |
proteasome 26S subunit, non-ATPase 11 |
- 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
- Neutrophil degranulation
- 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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RAP1B |
RAP1B, member of RAS oncogene family |
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- Rap1 signalling
- MAP2K and MAPK activation
- Neutrophil degranulation
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- MET activates RAP1 and RAC1
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
- Signaling downstream of RAS mutants
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RCC1 |
regulator of chromosome condensation 1 |
- Rev-mediated nuclear export of HIV RNA
- Nuclear import of Rev protein
- Postmitotic nuclear pore complex (NPC) reformation
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RNF10 |
ring finger protein 10 |
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RPA2 |
replication protein A2 |
- Translesion synthesis by REV1
- Recognition of DNA damage by PCNA-containing replication complex
- Translesion Synthesis by POLH
- Removal of the Flap Intermediate from the C-strand
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HSF1 activation
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- PCNA-Dependent Long Patch Base Excision Repair
- Translesion synthesis by POLK
- Translesion synthesis by POLI
- Termination of translesion DNA synthesis
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Formation of Incision Complex in GG-NER
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Dual Incision in GG-NER
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Fanconi Anemia Pathway
- Regulation of TP53 Activity through Phosphorylation
- Activation of the pre-replicative complex
- Removal of the Flap Intermediate
- G2/M DNA damage checkpoint
- Meiotic recombination
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RUNX1 |
RUNX family transcription factor 1 |
- Pre-NOTCH Transcription and Translation
- Organic cation transport
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Acute myeloid leukemia (AML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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RUNX3 |
RUNX family transcription factor 3 |
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 Regulates Immune Response and Cell Migration
- RUNX3 Regulates Immune Response and Cell Migration
- RUNX3 regulates WNT signaling
- RUNX3 regulates YAP1-mediated transcription
- RUNX3 regulates RUNX1-mediated transcription
- RUNX3 regulates p14-ARF
- RUNX3 regulates BCL2L11 (BIM) transcription
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SAT1 |
spermidine/spermine N1-acetyltransferase 1 |
- Interconversion of polyamines
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- N-ethyl-N-[3-(propylamino)propyl]propane-1,3-diamine
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- Keratosis follicularis spinulosa decalvans
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SERPINB9 |
serpin family B member 9 |
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SIX1 |
SIX homeobox 1 |
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- Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
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SIX2 |
SIX homeobox 2 |
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SIX3 |
SIX homeobox 3 |
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SIX6 |
SIX homeobox 6 |
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- Anophthalmia and microphthalmia (A/M)
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SMN1 |
survival of motor neuron 1, telomeric |
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- Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
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SNRPG |
small nuclear ribonucleoprotein polypeptide G |
- 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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TCF3 |
transcription factor 3 |
- Myogenesis
- Myogenesis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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TCF4 |
transcription factor 4 |
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- Pitt-Hopkins syndrome, including: Pitt-Hopkins syndrome; Pitt-Hopkins-like syndrome
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TK1 |
thymidine kinase 1 |
- G1/S-Specific Transcription
- Pyrimidine salvage
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- Dithioerythritol
- Thymidine-5'-Triphosphate
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TLE2 |
TLE family member 2, transcriptional corepressor |
- Formation of the beta-catenin:TCF transactivating complex
- NOTCH1 Intracellular Domain Regulates Transcription
- Deactivation of the beta-catenin transactivating complex
- Repression of WNT target genes
- Repression of WNT target genes
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TLX1 |
T cell leukemia homeobox 1 |
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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TLX2 |
T cell leukemia homeobox 2 |
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TLX3 |
T cell leukemia homeobox 3 |
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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TSC22D1 |
TSC22 domain family member 1 |
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UTY |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
- HDMs demethylate histones
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ZFP64 |
ZFP64 zinc finger protein |
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