RERE and ECM1 |
arginine-glutamic acid dipeptide repeats |
extracellular matrix protein 1 |
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- Lipoid proteinosis; Urbach-Wiethe disease
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RERE and TRIM22 |
arginine-glutamic acid dipeptide repeats |
tripartite motif containing 22 |
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- Interferon gamma signaling
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RERE and PRRC2A |
arginine-glutamic acid dipeptide repeats |
proline rich coiled-coil 2A |
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RERE and PLSCR1 |
arginine-glutamic acid dipeptide repeats |
phospholipid scramblase 1 |
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RERE and H3C14 |
arginine-glutamic acid dipeptide repeats |
H3 clustered histone 14 |
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- 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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RERE and PRRC2B |
arginine-glutamic acid dipeptide repeats |
proline rich coiled-coil 2B |
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RERE and RBFOX2 |
arginine-glutamic acid dipeptide repeats |
RNA binding fox-1 homolog 2 |
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- FGFR2 alternative splicing
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RERE and ALG13 |
arginine-glutamic acid dipeptide repeats |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
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ATP2B2 and DLG2 |
ATPase plasma membrane Ca2+ transporting 2 |
discs large MAGUK scaffold protein 2 |
- Reduction of cytosolic Ca++ levels
- Ion homeostasis
- Ion transport by P-type ATPases
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- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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ATP2B4 and DLG2 |
ATPase plasma membrane Ca2+ transporting 4 |
discs large MAGUK scaffold protein 2 |
- Reduction of cytosolic Ca++ levels
- Ion homeostasis
- Ion transport by P-type ATPases
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- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Neurexins and neuroligins
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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ATP5F1B and TERT |
ATP synthase F1 subunit beta |
telomerase reverse transcriptase |
- Mitochondrial protein import
- Mitochondrial protein import
- Formation of ATP by chemiosmotic coupling
- Transcriptional activation of mitochondrial biogenesis
- Cristae formation
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- Telomere Extension By Telomerase
- Formation of the beta-catenin:TCF transactivating complex
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- Quercetin
- 1-ACETYL-2-CARBOXYPIPERIDINE
- AUROVERTIN B
- PICEATANNOL
- N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE
- Phenethyl Isothiocyanate
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- Zidovudine
- Grn163l
- Tertomotide
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- Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
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ATP6V1E1 and ATP6V1H |
ATPase H+ transporting V1 subunit E1 |
ATPase H+ transporting V1 subunit H |
- ROS and RNS production in phagocytes
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Amino acids regulate mTORC1
- Ion channel transport
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- ROS and RNS production in phagocytes
- Nef Mediated CD4 Down-regulation
- Nef Mediated CD8 Down-regulation
- Insulin receptor recycling
- Transferrin endocytosis and recycling
- Blockage of phagosome acidification
- Amino acids regulate mTORC1
- Ion channel transport
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ATP5PO and CEP70 |
ATP synthase peripheral stalk subunit OSCP |
centrosomal protein 70 |
- Formation of ATP by chemiosmotic coupling
- Cristae formation
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- Regulation of PLK1 Activity at G2/M Transition
- 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
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
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ATRX and HDAC4 |
ATRX chromatin remodeler |
histone deacetylase 4 |
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- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- RUNX2 regulates chondrocyte maturation
- RUNX3 regulates p14-ARF
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- Zinc
- Belinostat
- Romidepsin
- Panobinostat
- N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide
- 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL
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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)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 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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- Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
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KIF1A and RFX6 |
kinesin family member 1A |
regulatory factor X6 |
- COPI-dependent Golgi-to-ER retrograde traffic
- Kinesins
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- Regulation of gene expression in beta cells
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- Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
- Phosphoaminophosphonic Acid-Adenylate Ester
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AUP1 and ITGA1 |
AUP1 lipid droplet regulating VLDL assembly factor |
integrin subunit alpha 1 |
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- Integrin cell surface interactions
- Integrin cell surface interactions
- Laminin interactions
- Other semaphorin interactions
- Smooth Muscle Contraction
- CHL1 interactions
- Platelet Adhesion to exposed collagen
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AVPR2 and GNG2 |
arginine vasopressin receptor 2 |
G protein subunit gamma 2 |
- Vasopressin-like receptors
- G alpha (s) signalling events
- Vasopressin regulates renal water homeostasis via Aquaporins
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
- ADORA2B mediated anti-inflammatory cytokines production
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- Activation of G protein gated Potassium channels
- Glucagon signaling in metabolic regulation
- G-protein activation
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- ADP signalling through P2Y purinoceptor 12
- G beta:gamma signalling through PI3Kgamma
- Prostacyclin signalling through prostacyclin receptor
- Prostacyclin signalling through prostacyclin receptor
- Adrenaline,noradrenaline inhibits insulin secretion
- Adrenaline,noradrenaline inhibits insulin secretion
- Ca2+ pathway
- Ca2+ pathway
- G alpha (q) signalling events
- G alpha (12/13) signalling events
- G beta:gamma signalling through PLC beta
- G alpha (s) signalling events
- ADP signalling through P2Y purinoceptor 1
- ADP signalling through P2Y purinoceptor 1
- G alpha (i) signalling events
- G alpha (z) signalling events
- Glucagon-type ligand receptors
- Thromboxane signalling through TP receptor
- Vasopressin regulates renal water homeostasis via Aquaporins
- Thrombin signalling through proteinase activated receptors (PARs)
- Thrombin signalling through proteinase activated receptors (PARs)
- Presynaptic function of Kainate receptors
- Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
- G beta:gamma signalling through BTK
- G beta:gamma signalling through CDC42
- Extra-nuclear estrogen signaling
- ADORA2B mediated anti-inflammatory cytokines production
- Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
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- Desmopressin
- Vasopressin
- Conivaptan
- Terlipressin
- M0002
- OPC-51803
- Tolvaptan
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- Congenital nephrogenic diabetes insipidus (NDI)
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AZGP1 and NUF2 |
alpha-2-glycoprotein 1, zinc-binding |
NUF2 component of NDC80 kinetochore complex |
- Miscellaneous transport and binding events
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- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- RHO GTPases Activate Formins
- Mitotic Prometaphase
- EML4 and NUDC in mitotic spindle formation
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- N-acetyl-alpha-neuraminic acid
- Copper
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B2M and HLA-C |
beta-2-microglobulin |
major histocompatibility complex, class I, C |
- ER-Phagosome pathway
- ER-Phagosome pathway
- Endosomal/Vacuolar pathway
- Nef mediated downregulation of MHC class I complex cell surface expression
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- DAP12 interactions
- DAP12 signaling
- DAP12 signaling
- Neutrophil degranulation
- Interferon gamma signaling
- Modulation by Mtb of host immune system
- Amyloid fiber formation
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
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- ER-Phagosome pathway
- ER-Phagosome pathway
- Endosomal/Vacuolar pathway
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Neutrophil degranulation
- Interferon gamma signaling
- Interferon alpha/beta signaling
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
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- Doxycycline
- 3-Indolebutyric Acid
- N-Formylmethionine
- Copper
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B2M and PRSS23 |
beta-2-microglobulin |
serine protease 23 |
- ER-Phagosome pathway
- ER-Phagosome pathway
- Endosomal/Vacuolar pathway
- Nef mediated downregulation of MHC class I complex cell surface expression
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- DAP12 interactions
- DAP12 signaling
- DAP12 signaling
- Neutrophil degranulation
- Interferon gamma signaling
- Modulation by Mtb of host immune system
- Amyloid fiber formation
- Antigen Presentation: Folding, assembly and peptide loading of class I MHC
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- 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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- Doxycycline
- 3-Indolebutyric Acid
- N-Formylmethionine
- Copper
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