Novel |
CRYBA4 |
crystallin beta A4 |
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- Anophthalmia and microphthalmia (A/M)
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Novel |
CDADC1 |
cytidine and dCMP deaminase domain containing 1 |
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Novel |
CNTN3 |
contactin 3 |
- Post-translational modification: synthesis of GPI-anchored proteins
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Novel |
COX17 |
cytochrome c oxidase copper chaperone COX17 |
- Mitochondrial protein import
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Novel |
CSK |
C-terminal Src kinase |
- GAB1 signalosome
- Phosphorylation of CD3 and TCR zeta chains
- Integrin signaling
- PD-1 signaling
- MAP2K and MAPK activation
- 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
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Negative regulation of FLT3
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- Dasatinib
- Staurosporine
- TG-100801
- Fostamatinib
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Novel |
ESD |
esterase D |
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Novel |
LRCH1 |
leucine rich repeats and calponin homology domain containing 1 |
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Novel |
MTRF1 |
mitochondrial translation release factor 1 |
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Novel |
PCDHB5 |
protocadherin beta 5 |
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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
|
- 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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LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF fusions
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- Restrictive dermopathy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- Mandibuloacral dysplasia
- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
- Limb-girdle muscular dystrophy (LGMD)
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Hutchinson-Gilford progeria syndrome
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CCND1 |
cyclin D1 |
- SCF(Skp2)-mediated degradation of p27/p21
- Pre-NOTCH Transcription and Translation
- RMTs methylate histone arginines
- Interleukin-4 and Interleukin-13 signaling
- 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 VENTX
- Transcriptional regulation by RUNX2
- Regulation of RUNX1 Expression and Activity
- RUNX3 regulates WNT signaling
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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- Acetylsalicylic acid
- Arsenic trioxide
- Encorafenib
- Bryostatin 1
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- Hairy-cell leukemia
- von Hippel-Lindau syndrome
- Esophageal cancer
- Oral cancer
- Multiple myeloma
- Laryngeal cancer
- Breast cancer
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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
|
- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
|
|
AR |
androgen receptor |
- HSP90 chaperone cycle for steroid hormone receptors (SHR)
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Ub-specific processing proteases
- RUNX2 regulates osteoblast differentiation
- RUNX2 regulates osteoblast differentiation
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- Diethylstilbestrol
- Levonorgestrel
- Progesterone
- Spironolactone
- Flutamide
- Oxandrolone
- Fluphenazine
- Testosterone
- Mitotane
- Estrone
- Nilutamide
- Tamoxifen
- Norethisterone
- Drostanolone
- Norgestimate
- Nandrolone phenpropionate
- Ketoconazole
- Acetophenazine
- Bicalutamide
- Fluoxymesterone
- Drospirenone
- Danazol
- Testosterone propionate
- Oxybenzone
- 1-Testosterone
- Boldenone
- Calusterone
- Periciazine
- Prasterone
- Flufenamic acid
- Stanolone
- (R)-Bicalutamide
- Metribolone
- (3AALPHA,4ALPHA,7ALPHA,7AALPHA)- 3A,4,7,7A-TETRAHYDRO-2-(4-NITRO-1-NAPHTHALENYL)-4,7-ETHANO-1H-ISOINDOLE-1,3(2H)-DIONE
- Cyproterone acetate
- LGD2941
- Dimethylcurcumin
- Oxymetholone
- Methyltestosterone
- Norelgestromin
- Stanozolol
- Tetrahydrogestrinone
- (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide
- BMS-564929
- S-23
- phenoxy)propyl]amino}-2-(trifluoromethyl)benzonitrile
- (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide
- Andarine
- (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE
- (5S,8R,9S,10S,13R,14S,17S)-13-{2-[(3,5-DIFLUOROBENZYL)OXY]ETHYL}-17-HYDROXY-10-METHYLHEXADECAHYDRO-3H-CYCLOPENTA[A]PHENANTHREN-3-ONE
- S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE
- 1-TERT-BUTYL-3-(2,5-DIMETHYLBENZYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE
- 4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-1-NAPHTHONITRILE
- 2-chloro-4-{[(1R,3Z,7S,7aS)-7-hydroxy-1-(trifluoromethyl)tetrahydro-1H-pyrrolo[1,2-c][1,3]oxazol-3-ylidene]amino}-3-methylbenzonitrile
- LGD-2226
- 3-[(4-AMINO-1-TERT-BUTYL-1H-PYRAZOLO[3,4-D]PYRIMIDIN-3-YL)METHYL]PHENOL
- Triclosan
- Nandrolone decanoate
- Ulipristal
- Enzalutamide
- Eugenol
- Dienogest
- Norethynodrel
- Norgestrel
- Homosalate
- Enzacamene
- Mibolerone
- Phenothiazine
- Gestrinone
- Apalutamide
- Clascoterone
- Darolutamide
- Esculin
- Ligandrol
- Testosterone cypionate
- Testosterone enanthate
- Testosterone undecanoate
- Stanolone acetate
- Segesterone acetate
- Boldenone undecylenate
- Echinacoside
- Ketodarolutamide
|
- 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
- 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome; Hypospadias; Cryptorchidism
- Prostate cancer
- Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease
|
|
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)
|
- Purvalanol
- Alvocidib
- Palbociclib
- Ribociclib
- Abemaciclib
- Fostamatinib
|
- Glioma
- Malignant melanoma
- Cervical cancer
|
|
INS |
insulin |
- Regulation of gene expression in beta cells
- Insulin processing
- Insulin processing
- Synthesis, secretion, and deacylation of Ghrelin
- Regulation of insulin secretion
- COPI-mediated anterograde transport
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- IRS activation
- Signal attenuation
- Insulin receptor signalling cascade
- Signaling by Insulin receptor
- Insulin receptor recycling
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- Amyloid fiber formation
|
- Zinc
- M-Cresol
- Myristic acid
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
|
- Maturity onset diabetes of the young (MODY)
- Type I diabetes mellitus
- Permanent neonatal diabetes mellitus (PNDM)
|
|
PAX6 |
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
|
|
- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
|
|
PPARG |
peroxisome proliferator activated receptor gamma |
- PPARA activates gene expression
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- MECP2 regulates transcription factors
|
- alpha-Linolenic acid
- Icosapent
- Troglitazone
- Mesalazine
- Valproic acid
- Indomethacin
- Rosiglitazone
- Fenoprofen
- Nateglinide
- Sulfasalazine
- Clofazimine
- Repaglinide
- Telmisartan
- Balsalazide
- Ibuprofen
- Glipizide
- Amiodarone
- Pioglitazone
- Mitiglinide
- Bezafibrate
- Flufenamic acid
- Resveratrol
- Phthalic Acid
- Capric acid
- Doconexent
- Oleic Acid
- (S)-3-(4-(2-Carbazol-9-Yl-Ethoxy)-Phenyl)-2-Ethoxy-Propionic Acid
- 2-{5-[3-(6-BENZOYL-1-PROPYLNAPHTHALEN-2-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID
- Reglitazar
- Elafibranor
- AMG-131
- CLX-0921
- Muraglitazar
- Ertiprotafib
- Ragaglitazar
- Tesaglitazar
- (2S)-3-(1-{[2-(2-CHLOROPHENYL)-5-METHYL-1,3-OXAZOL-4-YL]METHYL}-1H-INDOL-5-YL)-2-ETHOXYPROPANOIC ACID
- (9Z,11E,13S)-13-hydroxyoctadeca-9,11-dienoic acid
- 2-{5-[3-(7-PROPYL-3-TRIFLUOROMETHYLBENZO[D]ISOXAZOL-6-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID
- (4S,5E,7Z,10Z,13Z,16Z,19Z)-4-hydroxydocosa-5,7,10,13,16,19-hexaenoic acid
- (5R,6E,8Z,11Z,14Z,17Z)-5-hydroxyicosa-6,8,11,14,17-pentaenoic acid
- (8E,10S,12Z)-10-hydroxy-6-oxooctadeca-8,12-dienoic acid
- (8R,9Z,12Z)-8-hydroxy-6-oxooctadeca-9,12-dienoic acid
- 9(S)-HODE
- difluoro(5-{2-[(5-octyl-1H-pyrrol-2-yl-kappaN)methylidene]-2H-pyrrol-5-yl-kappaN}pentanoato)boron
- (2S)-2-ETHOXY-3-{4-[2-(10H-PHENOXAZIN-10-YL)ETHOXY]PHENYL}PROPANOIC ACID
- 3-(5-methoxy-1H-indol-3-yl)propanoic acid
- Indeglitazar
- (2S)-2-(4-ethylphenoxy)-3-phenylpropanoic acid
- 2-chloro-5-nitro-N-phenylbenzamide
- (2S)-2-(biphenyl-4-yloxy)-3-phenylpropanoic acid
- 3-[5-(2-nitropent-1-en-1-yl)furan-2-yl]benzoic acid
- 2-[(2,4-DICHLOROBENZOYL)AMINO]-5-(PYRIMIDIN-2-YLOXY)BENZOIC ACID
- (5E,14E)-11-oxoprosta-5,9,12,14-tetraen-1-oic acid
- 3-FLUORO-N-[1-(4-FLUOROPHENYL)-3-(2-THIENYL)-1H-PYRAZOL-5-YL]BENZENESULFONAMIDE
- Triclosan
- (2S)-2-(4-chlorophenoxy)-3-phenylpropanoic acid
- Aleglitazar
- Clinofibrate
- Cannabidiol
- Lobeglitazone
- Ciglitazone
- Dexibuprofen
- Omega-3 fatty acids
- Curcumin
- Arhalofenate
- Isoflavone
- Naveglitazar
- Fenofibric acid
- Fish oil
- Medical Cannabis
- Nabiximols
- Darglitazone
- Curcumin sulfate
|
- Type II diabetes mellitus
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Thyroid cancer
|
|
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
- Regulation of actin dynamics for phagocytic cup formation
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- Myogenesis
- Myogenesis
- RHO GTPases Activate WASPs and WAVEs
- HDR through Single Strand Annealing (SSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Cyclin D associated events in G1
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX2 regulates osteoblast differentiation
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
|
- ATP
- Imatinib
- Dasatinib
- N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-Pyridinecarboxamide
- Nilotinib
- XL228
- Bosutinib
- 2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE
- 1-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREA
- Myristic acid
- PD-166326
- 5-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDE
- 2-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamide
- Regorafenib
- Ponatinib
- Fostamatinib
- Brigatinib
- Radotinib
|
- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
|