Novel |
BARD1 |
BRCA1 associated RING domain 1 |
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- UCH proteinases
- Metalloprotease DUBs
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
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Novel |
CUL4B |
cullin 4B |
- Recognition of DNA damage by PCNA-containing replication complex
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Neddylation
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- 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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Novel |
DPYD |
dihydropyrimidine dehydrogenase |
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- (5S)-5-Iododihydro-2,4(1H,3H)-pyrimidinedione
- NADPH
- 6-Carboxymethyluracil
- Flavin adenine dinucleotide
- Flavin mononucleotide
- Uracil
- Eniluracil
- 5-Iodouracil
- Gimeracil
- Tegafur-uracil
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- Dihydropyrimidine dehydrogenase deficiency
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Novel |
ENPP7 |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
- Glycosphingolipid metabolism
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Novel |
FMR1 |
FMRP translational regulator 1 |
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- Premature ovarian failure
- Fragile X Syndrome, including: Fragile X Syndrome (FXS); Fragile X tremor/ataxia syndrome (FXTAS)
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Novel |
PI3 |
peptidase inhibitor 3 |
- Antimicrobial peptides
- Formation of the cornified envelope
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Novel |
PLTP |
phospholipid transfer protein |
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Novel |
PTPRT |
protein tyrosine phosphatase receptor type T |
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Novel |
ZNF687 |
zinc finger protein 687 |
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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
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- 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
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- Chronic myeloid leukemia (CML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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ACTN1 |
actinin alpha 1 |
- Platelet degranulation
- Syndecan interactions
- Nephrin family interactions
- Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
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ADAM12 |
ADAM metallopeptidase domain 12 |
- Signaling by EGFR
- Invadopodia formation
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ADAM15 |
ADAM metallopeptidase domain 15 |
- Degradation of the extracellular matrix
- Invadopodia formation
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ADRB2 |
adrenoceptor beta 2 |
- Adrenoceptors
- G alpha (s) signalling events
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- ADORA2B mediated anti-inflammatory cytokines production
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- Spermine
- Amphetamine
- Betaxolol
- Bethanidine
- Isoetharine
- Cabergoline
- Metoprolol
- Olanzapine
- Atenolol
- Norepinephrine
- Timolol
- Phenylpropanolamine
- Dipivefrin
- Sotalol
- Carteolol
- Nortriptyline
- Propranolol
- Labetalol
- Bisoprolol
- Epinephrine
- Paroxetine
- Trimipramine
- Cryptenamine
- Orciprenaline
- Dobutamine
- Pseudoephedrine
- Alprenolol
- Ritodrine
- Terbutaline
- Bitolterol
- Phenoxybenzamine
- Salmeterol
- Pindolol
- Formoterol
- Salbutamol
- Ergoloid mesylate
- Isoprenaline
- Arbutamine
- Amiodarone
- Carvedilol
- Desipramine
- Propafenone
- Acebutolol
- Nadolol
- Levobunolol
- Metipranolol
- Aripiprazole
- Arformoterol
- Fenoterol
- Pirbuterol
- Bevantolol
- Penbutolol
- Ephedra sinica root
- Ephedrine
- Mephentermine
- Procaterol
- Clenbuterol
- Bambuterol
- Oxprenolol
- Putrescine
- Spermidine
- Celiprolol
- Nebivolol
- Indacaterol
- Bedoradrine
- NCX 950
- Asenapine
- Droxidopa
- Bufuralol
- Protokylol
- (S)-carazolol
- Bopindolol
- Bupranolol
- Befunolol
- Olodaterol
- Vilanterol
- Arotinolol
- Doxofylline
- Racepinephrine
- Dihydroergocornine
- DL-Methylephedrine
- Etafedrine
- Tulobuterol
- Levosalbutamol
- Dihydroergocristine
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ADRB3 |
adrenoceptor beta 3 |
- Adrenoceptors
- G alpha (s) signalling events
- ADORA2B mediated anti-inflammatory cytokines production
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- Amphetamine
- Bethanidine
- Olanzapine
- Norepinephrine
- Nortriptyline
- Propranolol
- Paroxetine
- Trimipramine
- Cryptenamine
- Alprenolol
- Terbutaline
- Salmeterol
- Pindolol
- Formoterol
- Salbutamol
- Ergoloid mesylate
- Isoprenaline
- Arbutamine
- Amiodarone
- Fenoterol
- Ephedra sinica root
- Mephentermine
- Clenbuterol
- Oxprenolol
- Celiprolol
- Nebivolol
- Amibegron
- Solabegron
- Droxidopa
- Bufuralol
- Bopindolol
- Bupranolol
- Mirabegron
- Racepinephrine
- Dihydroergocornine
- DL-Methylephedrine
- Dihydroergocristine
- Vibegron
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AFAP1 |
actin filament associated protein 1 |
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AFAP1L2 |
actin filament associated protein 1 like 2 |
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AGAP1 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
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AKT1 |
AKT serine/threonine kinase 1 |
- Activation of BAD and translocation to mitochondria
- PIP3 activates AKT signaling
- PIP3 activates AKT signaling
- Downregulation of ERBB2:ERBB3 signaling
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
- MTOR signalling
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the cytosol
- AKT phosphorylates targets in the nucleus
- Negative regulation of the PI3K/AKT network
- eNOS activation
- AKT-mediated inactivation of FOXO1A
- Integrin signaling
- Deactivation of the beta-catenin transactivating complex
- CD28 dependent PI3K/Akt signaling
- CTLA4 inhibitory signaling
- G beta:gamma signalling through PI3Kgamma
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- VEGFR2 mediated vascular permeability
- TP53 Regulates Metabolic Genes
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- RAB GEFs exchange GTP for GDP on RABs
- RUNX2 regulates genes involved in cell migration
- Regulation of PTEN stability and activity
- Extra-nuclear estrogen signaling
- Negative regulation of NOTCH4 signaling
- FLT3 Signaling
- Regulation of localization of FOXO transcription factors
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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- ATP
- Arsenic trioxide
- Genistein
- Inositol 1,3,4,5-Tetrakisphosphate
- Resveratrol
- Archexin
- Enzastaurin
- Perifosine
- N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine
- 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine
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- PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
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ALDOB |
aldolase, fructose-bisphosphate B |
- Hereditary fructose intolerance
- Glycolysis
- Gluconeogenesis
- Fructose catabolism
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- 1,6-Fructose Diphosphate (Linear Form)
- sn-glycerol 3-phosphate
- Dihydroxyacetone phosphate
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- Hereditary fructose intolerance; Fructosemia
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