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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Transcriptional regulation of pluripotent stem cells
- Transcriptional regulation of testis differentiation
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- (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
- Phosphatidyl ethanol
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- Premature ovarian failure
- 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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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
- RAF/MAP kinase cascade
- 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 phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
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PIK3R3 |
phosphoinositide-3-kinase regulatory subunit 3 |
- 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
- Constitutive Signaling by Aberrant PI3K in Cancer
- Costimulation by the CD28 family
- CD28 dependent PI3K/Akt signaling
- G alpha (q) signalling events
- 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 phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
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RB1 |
RB transcriptional corepressor 1 |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Condensation of Prophase Chromosomes
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- RUNX2 regulates osteoblast differentiation
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Defective translocation of RB1 mutants to the nucleus
- Replication of the SARS-CoV-1 genome
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Replication of the SARS-CoV-2 genome
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- Insulin human
- Insulin pork
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- Bladder cancer
- Small cell lung cancer
- Glioma
- Osteosarcoma
- Breast cancer
- Esophageal cancer
- Hepatocellular carcinoma
- Chronic myeloid leukemia (CML)
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RELA |
RELA proto-oncogene, NF-kB subunit |
- Activation of NF-kappaB in B cells
- RIP-mediated NFkB activation via ZBP1
- Regulated proteolysis of p75NTR
- Downstream TCR signaling
- NF-kB is activated and signals survival
- Senescence-Associated Secretory Phenotype (SASP)
- FCERI mediated NF-kB activation
- DEx/H-box helicases activate type I IFN and inflammatory cytokines production
- PKMTs methylate histone lysines
- Transcriptional regulation of white adipocyte differentiation
- TAK1 activates NFkB by phosphorylation and activation of IKKs complex
- Interleukin-1 processing
- SUMOylation of immune response proteins
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- CD209 (DC-SIGN) signaling
- CLEC7A/inflammasome pathway
- The NLRP3 inflammasome
- Transcriptional Regulation by VENTX
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- Purinergic signaling in leishmaniasis infection
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SFPQ |
splicing factor proline and glutamine rich |
- PTK6 Regulates Proteins Involved in RNA Processing
- Suppression of apoptosis
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VCP |
valosin containing protein |
- Translesion Synthesis by POLH
- HSF1 activation
- ABC-family proteins mediated transport
- N-glycan trimming in the ER and Calnexin/Calreticulin cycle
- Hedgehog ligand biogenesis
- Hh mutants are degraded by ERAD
- Defective CFTR causes cystic fibrosis
- Josephin domain DUBs
- Ovarian tumor domain proteases
- Neutrophil degranulation
- E3 ubiquitin ligases ubiquitinate target proteins
- Protein methylation
- Aggrephagy
- Attachment and Entry
- Attachment and Entry
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- Phosphoaminophosphonic Acid-Adenylate Ester
- Phenethyl Isothiocyanate
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- Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
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YES1 |
YES proto-oncogene 1, Src family tyrosine kinase |
- Signaling by ERBB2
- Signaling by SCF-KIT
- Signaling by SCF-KIT
- Regulation of KIT signaling
- FCGR activation
- PECAM1 interactions
- EPH-Ephrin signaling
- CD28 co-stimulation
- CTLA4 inhibitory signaling
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- EPH-ephrin mediated repulsion of cells
- RUNX2 regulates osteoblast differentiation
- Regulation of signaling by CBL
- Regulation of signaling by CBL
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated phagocytosis
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
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ATF2 |
activating transcription factor 2 |
- Transcriptional activation of mitochondrial biogenesis
- HATs acetylate histones
- Circadian Clock
- Activation of the AP-1 family of transcription factors
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NGF-stimulated transcription
- NGF-stimulated transcription
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK4 (GCN2) to amino acid deficiency
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BAG1 |
BAG cochaperone 1 |
- Regulation of HSF1-mediated heat shock response
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- (2R,3R,4S,5R)-2-[6-amino-8-[(3,4-dichlorophenyl)methylamino]purin-9-yl]-5-(hydroxymethyl)oxolane-3,4-diol
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CDC25B |
cell division cycle 25B |
- Cyclin A/B1/B2 associated events during G2/M transition
- Cyclin A:Cdk2-associated events at S phase entry
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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CEBPB |
CCAAT enhancer binding protein beta |
- Senescence-Associated Secretory Phenotype (SASP)
- Senescence-Associated Secretory Phenotype (SASP)
- ATF4 activates genes in response to endoplasmic reticulum stress
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional Regulation by VENTX
- Transcriptional regulation of granulopoiesis
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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CREBBP |
CREB binding protein |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- 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
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- 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
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Circadian Clock
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
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- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
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- Rubinstein-Taybi syndrome
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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
- Signaling by GSK3beta mutants
- 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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FES |
FES proto-oncogene, tyrosine kinase |
- Signaling by SCF-KIT
- Sema3A PAK dependent Axon repulsion
- SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
- CRMPs in Sema3A signaling
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FLNA |
filamin A |
- Platelet degranulation
- GP1b-IX-V activation signalling
- Cell-extracellular matrix interactions
- RHO GTPases activate PAKs
- OAS antiviral response
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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)
- Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Periventricular nodular heterotopia (PVNH)
- FG syndrome (FGS); Opitz-Kaveggia syndrome
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GAK |
cyclin G associated kinase |
- Golgi Associated Vesicle Biogenesis
- Clathrin-mediated endocytosis
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HIPK3 |
homeodomain interacting protein kinase 3 |
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IARS1 |
isoleucyl-tRNA synthetase 1 |
- Selenoamino acid metabolism
- Cytosolic tRNA aminoacylation
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MATK |
megakaryocyte-associated tyrosine kinase |
- Downregulation of ERBB2 signaling
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