Novel |
ABCG1 |
ATP binding cassette subfamily G member 1 |
- ABC transporters in lipid homeostasis
- HDL remodeling
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
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Novel |
ALDH1A1 |
aldehyde dehydrogenase 1 family member A1 |
- RA biosynthesis pathway
- Fructose catabolism
- Ethanol oxidation
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Myoepithelial Cells
- Developmental Lineage of Mammary Stem Cells
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- NADH
- Vitamin A
- Tretinoin
- 1,4-Dithiothreitol
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Novel |
INPP5B |
inositol polyphosphate-5-phosphatase B |
- Synthesis of IP2, IP, and Ins in the cytosol
- Synthesis of IP3 and IP4 in the cytosol
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- D-Myo-Inositol-1,4-Bisphosphate
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Novel |
LINC01587 |
long intergenic non-protein coding RNA 1587 |
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Novel |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
- Platelet Aggregation (Plug Formation)
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- Romiplostim
- SB-559448
- Eltrombopag
- Thrombopoietin
- Avatrombopag
- Lusutrombopag
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- Congenital amegakaryocytic thrombocytopenia (CAMT)
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Novel |
MYCBP |
MYC binding protein |
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Novel |
UROD |
uroporphyrinogen decarboxylase |
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- Coproporphyrin I
- Coproporphyrinogen III
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- Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria (ALADP); Hereditary Coproporphyria (HCP)
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Novel |
YBX1 |
Y-box binding protein 1 |
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- Interferon gamma signaling
- Noncanonical activation of NOTCH3
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Novel |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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- Restrictive dermopathy
- Mandibuloacral dysplasia
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ACAN |
aggrecan |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Keratan sulfate biosynthesis
- Keratan sulfate degradation
- ECM proteoglycans
- Defective CHST6 causes MCDC1
- Defective ST3GAL3 causes MCT12 and EIEE15
- Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
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- Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoarthritis
- Spondyloepiphyseal dysplasia, Kimberley type
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ACAT1 |
acetyl-CoA acetyltransferase 1 |
- Branched-chain amino acid catabolism
- Utilization of Ketone Bodies
- Synthesis of Ketone Bodies
- Mitochondrial protein degradation
- Maturation of TCA enzymes and regulation of TCA cycle
- Beta-ketothiolase deficiency
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- Sulfasalazine
- Cannabidiol
- Medical Cannabis
- Nabiximols
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ACTB |
actin beta |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF1 fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Clathrin-mediated endocytosis
- RHOF GTPase cycle
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Sensory processing of sound by inner hair cells of the cochlea
- Sensory processing of sound by outer hair cells of the cochlea
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Regulation of CDH1 Function
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Factors involved in megakaryocyte development and platelet production
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the dystrophin-glycoprotein complex (DGC)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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- Quercetin
- Phenethyl Isothiocyanate
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- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
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ARHGEF11 |
Rho guanine nucleotide exchange factor 11 |
- NRAGE signals death through JNK
- G alpha (12/13) signalling events
- Sema4D induced cell migration and growth-cone collapse
- RHOA GTPase cycle
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
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ARHGEF12 |
Rho guanine nucleotide exchange factor 12 |
- NRAGE signals death through JNK
- G alpha (12/13) signalling events
- Sema4D induced cell migration and growth-cone collapse
- RHOA GTPase cycle
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
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ARHGEF2 |
Rho/Rac guanine nucleotide exchange factor 2 |
- NRAGE signals death through JNK
- G alpha (12/13) signalling events
- RHOA GTPase cycle
- RHOB GTPase cycle
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ATP5F1A |
ATP synthase F1 subunit alpha |
- Mitochondrial protein import
- Formation of ATP by chemiosmotic coupling
- Cristae formation
- Mitochondrial protein degradation
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- Quercetin
- 1-ACETYL-2-CARBOXYPIPERIDINE
- AUROVERTIN B
- Piceatannol
- N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE
- Artenimol
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BCAR1 |
BCAR1 scaffold protein, Cas family member |
- Downstream signal transduction
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- VEGFA-VEGFR2 Pathway
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
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CAV1 |
caveolin 1 |
- Triglyceride catabolism
- eNOS activation
- NOSTRIN mediated eNOS trafficking
- Thyroxine biosynthesis
- Basigin interactions
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- RHOA GTPase cycle
- Extra-nuclear estrogen signaling
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOQ GTPase cycle
- RHOH GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- RHOF GTPase cycle
- FOXO-mediated transcription of cell cycle genes
- RND3 GTPase cycle
- RND2 GTPase cycle
- RND1 GTPase cycle
- SARS-CoV-1 targets host intracellular signalling and regulatory pathways
- SARS-CoV-2 targets host intracellular signalling and regulatory pathways
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- Congenital generalized lipodystrophy (CGL)
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CBR1 |
carbonyl reductase 1 |
- Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
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- Rutin
- Resveratrol
- Heptaethylene glycol
- 2-(2-{2-[2-(2-{2-[2-(2-Ethoxy-Ethoxy)-Ethoxy]-Ethoxy}-Ethoxy)-Ethoxy]-Ethoxy}-Ethoxy)-Ethanol, Polyethyleneglycol Peg400
- Quercetin
- 3-(4-Amino-1-Tert-Butyl-1h-Pyrazolo[3,4-D]Pyrimidin-3-Yl)Phenol
- Curcumin
- Curcumin sulfate
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CDH1 |
cadherin 1 |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Integrin cell surface interactions
- Apoptotic cleavage of cell adhesion proteins
- Adherens junctions interactions
- RHO GTPases activate IQGAPs
- InlA-mediated entry of Listeria monocytogenes into host cells
- Regulation of CDH1 Function
- Regulation of CDH1 mRNA translation by microRNAs
- Degradation of CDH1
- Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
- Formation of definitive endoderm
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Myoepithelial Cells
- Developmental Lineage of Mammary Stem Cells
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- Penile cancer
- Breast cancer
- Gastric cancer
- Nasopharyngeal cancer
- Hepatocellular carcinoma
- Thyroid cancer
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