Novel |
DNAI1 |
dynein axonemal intermediate chain 1 |
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- Primary ciliary dyskinesia, including: Primary ciliary dyskinesia; Kartagener syndrome
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Novel |
CA9 |
carbonic anhydrase 9 |
- Regulation of gene expression by Hypoxia-inducible Factor
- Reversible hydration of carbon dioxide
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- Benzthiazide
- Benzthiazide
- Cyclothiazide
- Hydroflumethiazide
- Zonisamide
- Girentuximab
- Ellagic acid
- Sodium carbonate
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Novel |
GLIPR2 |
GLI pathogenesis related 2 |
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Novel |
NFX1 |
nuclear transcription factor, X-box binding 1 |
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Novel |
SIT1 |
signaling threshold regulating transmembrane adaptor 1 |
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TP53 |
tumor protein p53 |
- Activation of NOXA and translocation to mitochondria
- Activation of PUMA and translocation to mitochondria
- Pre-NOTCH Transcription and Translation
- Oxidative Stress Induced Senescence
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- DNA Damage/Telomere Stress Induced Senescence
- SUMOylation of transcription factors
- Autodegradation of the E3 ubiquitin ligase COP1
- Association of TriC/CCT with target proteins during biosynthesis
- TP53 Regulates Metabolic Genes
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Regulation of TP53 Expression
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- G2/M DNA damage checkpoint
- G2/M Checkpoints
- Stabilization of p53
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- Transcriptional Regulation by VENTX
- RUNX3 regulates CDKN1A transcription
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Factors involved in megakaryocyte development and platelet production
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- Acetylsalicylic acid
- Zinc
- Triethyl phosphate
- AZD 3355
- 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Osteosarcoma
- Adrenal carcinoma
- Thyroid cancer
- Breast cancer
- Basal cell carcinoma
- Malignant melanoma
- Pancreatic cancer
- Gastric cancer
- Malignant pleural mesothelioma
- Non-small cell lung cancer
- Esophageal cancer
- Oral cancer
- Multiple myeloma
- Small cell lung cancer
- Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL)
- Glioma
- Squamous cell carcinoma
- Kaposi's sarcoma
- Cholangiocarcinoma
- Gallbladder cancer
- Cancer of the anal canal
- Hepatocellular carcinoma
- Choriocarcinoma
- Vulvar cancer
- Choroid plexus papilloma
- Burkitt lymphoma
- Adult T-cell leukemia
- Hairy-cell leukemia
- Bladder cancer
- Chronic lymphocytic leukemia (CLL)
- Penile cancer
- Endometrial Cancer
- Ovarian cancer
- Colorectal cancer
- Laryngeal cancer
- Chronic myeloid leukemia (CML)
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MYC |
MYC proto-oncogene, bHLH transcription factor |
- Transcription of E2F targets under negative control by DREAM complex
- NOTCH1 Intracellular Domain Regulates Transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- MAPK6/MAPK4 signaling
- Ub-specific processing proteases
- Interleukin-4 and Interleukin-13 signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- RUNX3 regulates WNT signaling
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Acetylsalicylic acid
- Nadroparin
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- Choriocarcinoma
- Penile cancer
- Burkitt lymphoma
- Oral cancer
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Multiple myeloma
- Small cell lung cancer
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Osteosarcoma
- Kaposi's sarcoma
- Laryngeal cancer
- Breast cancer
- Ovarian cancer
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HRAS |
HRas proto-oncogene, GTPase |
- SOS-mediated signalling
- Activation of RAS in B cells
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Signalling to RAS
- p38MAPK events
- p38MAPK events
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- FCERI mediated MAPK activation
- NCAM signaling for neurite out-growth
- EPHB-mediated forward signaling
- Ras activation upon Ca2+ influx through NMDA receptor
- VEGFR2 mediated cell proliferation
- CD209 (DC-SIGN) signaling
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Regulation of RAS by GAPs
- RAF activation
- RAF/MAP kinase cascade
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- RAS signaling downstream of NF1 loss-of-function variants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Insulin receptor signalling cascade
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Estrogen-stimulated signaling through PRKCZ
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- 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
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
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- Hexane-1,6-Diol
- Trifluoroethanol
- Guanosine-5'-Triphosphate
- Guanosine-5'-Diphosphate
- N,N'-DIMETHYL-N-(ACETYL)-N'-(7-NITROBENZ-2-OXA-1,3-DIAZOL-4-YL)ETHYLENEDIAMINE
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- Bladder cancer
- Penile cancer
- Squamous cell carcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
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TP63 |
tumor protein p63 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Metabolic Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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- Limb-mammary syndrome
- ADULT syndrome
- Split-hand/foot malformation (SHFM)
- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
- Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
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MDM2 |
MDM2 proto-oncogene |
- AKT phosphorylates targets in the cytosol
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- Trafficking of AMPA receptors
- Constitutive Signaling by AKT1 E17K in Cancer
- Ub-specific processing proteases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
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- Zinc
- Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone
- Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
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SLC4A1 |
solute carrier family 4 member 1 (Diego blood group) |
- Erythrocytes take up carbon dioxide and release oxygen
- Erythrocytes take up oxygen and release carbon dioxide
- Bicarbonate transporters
- Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
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- Hereditary elliptocytosis (HE)
- Hereditary spherocytosis (SPH)
- Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
- Distal renal tubular acidosis (RTA type 1)
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SOX3 |
SRY-box transcription factor 3 |
- Deactivation of the beta-catenin transactivating complex
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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)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
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CDK4 |
cyclin dependent kinase 4 |
- SCF(Skp2)-mediated degradation of p27/p21
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- RMTs methylate histone arginines
- Transcriptional regulation of white adipocyte differentiation
- Cyclin D associated events in G1
- Ubiquitin-dependent degradation of Cyclin D
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates Cell Cycle
- Transcriptional regulation by RUNX2
- Meiotic recombination
- Transcriptional regulation of granulopoiesis
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
- Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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- Purvalanol
- Alvocidib
- Palbociclib
- Ribociclib
- Abemaciclib
- Fostamatinib
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- Glioma
- Malignant melanoma
- Cervical cancer
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
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- Malignant pleural mesothelioma
- Osteosarcoma
- Type II diabetes mellitus
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RASSF1 |
Ras association domain family member 1 |
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- Non-small cell lung cancer
- Bladder cancer
- Nasopharyngeal cancer
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TGFB1 |
transforming growth factor beta 1 |
- Platelet degranulation
- Influenza Virus Induced Apoptosis
- Cell surface interactions at the vascular wall
- Molecules associated with elastic fibres
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Syndecan interactions
- ECM proteoglycans
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- TGFBR2 MSI Frameshift Mutants in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- Transcriptional regulation of white adipocyte differentiation
- UCH proteinases
- Interleukin-4 and Interleukin-13 signaling
- RUNX3 regulates CDKN1A transcription
- Regulation of RUNX3 expression and activity
- RUNX3 regulates p14-ARF
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- Hyaluronidase (ovine)
- Terazosin
- Hyaluronidase (human recombinant)
- Foreskin fibroblast (neonatal)
- Foreskin keratinocyte (neonatal)
- Hyaluronidase
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- Graft-versus-host disease
- Allograft rejection
- Camurati-Engelmann disease; Progressive diaphyseal dysplasia
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VHL |
von Hippel-Lindau tumor suppressor |
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- SUMOylation of ubiquitinylation proteins
- Neddylation
- Replication of the SARS-CoV-1 genome
- Replication of the SARS-CoV-2 genome
- RHOBTB3 ATPase cycle
- Antigen processing: Ubiquitination & Proteasome degradation
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- Renal cell carcinoma
- von Hippel-Lindau syndrome
- Congenital polycythemia; Familial erythrocytosis (ECYT)
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CCNE1 |
cyclin E1 |
- G0 and Early G1
- SCF(Skp2)-mediated degradation of p27/p21
- DNA Damage/Telomere Stress Induced Senescence
- Association of TriC/CCT with target proteins during biosynthesis
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- CDK-mediated phosphorylation and removal of Cdc6
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- G1/S-Specific Transcription
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- PTK6 Regulates Cell Cycle
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- RHOBTB3 ATPase cycle
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- Laryngeal cancer
- Gastric cancer
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STK11 |
serine/threonine kinase 11 |
- AMPK inhibits chREBP transcriptional activation activity
- Energy dependent regulation of mTOR by LKB1-AMPK
- Regulation of TP53 Activity through Phosphorylation
- FOXO-mediated transcription of cell death genes
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- Peutz-Jeghers syndrome
- Pancreatic cancer
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TSC1 |
TSC complex subunit 1 |
- Macroautophagy
- Inhibition of TSC complex formation by PKB
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- TBC/RABGAPs
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- Lymphangioleiomyomatosis (LAM)
- Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
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