Novel |
IDUA |
alpha-L-iduronidase |
- HS-GAG degradation
- CS/DS degradation
- MPS I - Hurler syndrome
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- Mucopolysaccharidosis type I (MPS1); Hurler-Scheie syndrome (MPS1HS); Hurler syndrome (MPS1H); Scheie syndrome (MPS1S)
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Novel |
ADD1 |
adducin 1 |
- Caspase-mediated cleavage of cytoskeletal proteins
- XBP1(S) activates chaperone genes
- Miscellaneous transport and binding events
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Novel |
GMPS |
guanine monophosphate synthase |
- Purine ribonucleoside monophosphate biosynthesis
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Novel |
GRK4 |
G protein-coupled receptor kinase 4 |
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Novel |
IRF2BPL |
interferon regulatory factor 2 binding protein like |
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Novel |
STK32B |
serine/threonine kinase 32B |
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ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
- Signaling by ERBB2
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- GRB7 events in ERBB2 signaling
- Downregulation of ERBB2:ERBB3 signaling
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Sema4D induced cell migration and growth-cone collapse
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Constitutive Signaling by Overexpressed ERBB2
- Drug-mediated inhibition of ERBB2 signaling
- Signaling by ERBB2 KD Mutants
- Resistance of ERBB2 KD mutants to trastuzumab
- Resistance of ERBB2 KD mutants to sapitinib
- Resistance of ERBB2 KD mutants to tesevatinib
- Resistance of ERBB2 KD mutants to neratinib
- Resistance of ERBB2 KD mutants to osimertinib
- Resistance of ERBB2 KD mutants to afatinib
- Resistance of ERBB2 KD mutants to AEE788
- Resistance of ERBB2 KD mutants to lapatinib
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- Drug resistance in ERBB2 TMD/JMD mutants
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- Trastuzumab
- Lapatinib
- IGN311
- Trastuzumab emtansine
- Varlitinib
- AV-412
- Pertuzumab
- Afatinib
- Tucatinib
- Tesevatinib
- Fostamatinib
- Brigatinib
- Margetuximab
- Zanubrutinib
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- Choriocarcinoma
- Pancreatic cancer
- Gastric cancer
- Bladder cancer
- Endometrial Cancer
- Ovarian cancer
- Cholangiocarcinoma
- Breast cancer
- Cervical cancer
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
- ERK/MAPK targets
- CREB phosphorylation
- Senescence-Associated Secretory Phenotype (SASP)
- Senescence-Associated Secretory Phenotype (SASP)
- Recycling pathway of L1
- CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
- RSK activation
- RSK activation
- Gastrin-CREB signalling pathway via PKC and MAPK
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- Acetylsalicylic acid
- Fostamatinib
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- Non-syndromic X-linked mental retardation
- Coffin-Lowry syndrome (CLS)
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STAT1 |
signal transducer and activator of transcription 1 |
- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- 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
- Growth hormone receptor signaling
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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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STAT3 |
signal transducer and activator of transcription 3 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- 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
- Growth hormone receptor signaling
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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ANOS1 |
anosmin 1 |
- FGFR1c ligand binding and activation
- Negative regulation of FGFR1 signaling
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- Hypogonadotropic hypogonadism; Kallmann syndrome (KAL)
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CTSK |
cathepsin K |
- Collagen degradation
- Degradation of the extracellular matrix
- Activation of Matrix Metalloproteinases
- Trafficking and processing of endosomal TLR
- MHC class II antigen presentation
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
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- [1-(4-Fluorobenzyl)Cyclobutyl]Methyl (1s)-1-[Oxo(1h-Pyrazol-5-Ylamino)Acetyl]Pentylcarbamate
- Cyanamide
- 3-amino-5-phenylpentane
- N2-[(Benzyloxy)carbonyl]-N-[(3R)-1-{N-[(benzyloxy)carbonyl]-L-leucyl}-4-oxo-3-pyrrolidinyl]-L-leucinamide
- N2-[(benzyloxy)carbonyl]-n1-[(3S)-1-cyanopyrrolidin-3-yl]-l-leucinamide
- N-[(2S)-4-Methyl-1-oxo-1-{[(4S)-3-oxo-1-(2-pyridinylsulfonyl)-4-azepanyl]amino}-2-pentanyl]-1-benzofuran-2-carboxamide
- Dibenzyl (carbonylbis{2,1-hydrazinediyl[(2S)-4-methyl-1-oxo-1,2-pentanediyl]})biscarbamate
- N2-({[(4-Bromophenyl)Methyl]Oxy}Carbonyl)-N1-[(1s)-1-Formylpentyl]-L-Leucinamide
- (2R)-2-(3-Biphenylyl)-N-{(2R)-2-hydroxy-3-[(2-pyridinylsulfonyl)amino]propyl}-4-methylpentanamide
- Tert-Butyl(1s)-1-Cyclohexyl-2-Oxoethylcarbamate
- MIV-701
- Relacatib
- Odanacatib
- 1-{7-cyclohexyl-6-[4-(4-methylpiperazin-1-yl)benzyl]-7H-pyrrolo[2,3-d]pyrimidin-2-yl}methanamine
- (2R)-3-Methyl-1-phenyl-2-butanyl [(2S)-1-oxo-2-hexanyl]carbamate
- 1-(PHENYLMETHYL)CYCLOPENTYL[(1S)-1-FORMYLPENTYL]CARBAMATE
- 6-(cyclohexylamino)-9-[2-(4-methylpiperazin-1-yl)-ethyl]-9H-purine-2-carbonitrile
- 9-CYCLOPENTYL-6-[2-(3-IMIDAZOL-1-YL-PROPOXY)-PHENYLAMINO]-9H-PURINE-2-CARBONITRILE
- N-(2-AMINOETHYL)-N~2~-{(1S)-1-[4'-(AMINOSULFONYL)BIPHENYL-4-YL]-2,2,2-TRIFLUOROETHYL}-L-LEUCINAMIDE
- (1R,2R)-N-(2-Aminoethyl)-2-{[(4-methoxyphenyl)sulfonyl]methyl}cyclohexanecarboxamide
- TERT-BUTYL 2-CYANO-2-METHYLHYDRAZINECARBOXYLATE
- MIV-711
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FGF23 |
fibroblast growth factor 23 |
- PI3K Cascade
- PIP3 activates AKT signaling
- Signaling by activated point mutants of FGFR1
- Signaling by activated point mutants of FGFR3
- FGFR4 ligand binding and activation
- FGFR3c ligand binding and activation
- FGFR1c ligand binding and activation
- FGFR1c and Klotho ligand binding and activation
- FGFR2c ligand binding and activation
- FGFR3 mutant receptor activation
- Activated point mutants of FGFR2
- Constitutive Signaling by Aberrant PI3K in Cancer
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Phospholipase C-mediated cascade: FGFR1
- Phospholipase C-mediated cascade; FGFR2
- Phospholipase C-mediated cascade; FGFR3
- Phospholipase C-mediated cascade; FGFR4
- Downstream signaling of activated FGFR1
- SHC-mediated cascade:FGFR1
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- PI-3K cascade:FGFR3
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- PI-3K cascade:FGFR4
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Signaling by FGFR2 in disease
- Signaling by FGFR1 in disease
- FGFRL1 modulation of FGFR1 signaling
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Signaling by FGFR3 point mutants in cancer
- Post-translational protein phosphorylation
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- Hypophosphatemic rickets; X-Linked dominant hypophosphatemia (XLH); Autosomal dominant hypophosphatemic rickets (ADHR); Autosomal recessive hypophosphatemic rickets (ARHR); Hereditary hypophophatemic rickets with hypercalciuria (HHRH)
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FGF3 |
fibroblast growth factor 3 |
- PI3K Cascade
- PIP3 activates AKT signaling
- FGFR1b ligand binding and activation
- FGFR2b ligand binding and activation
- Activated point mutants of FGFR2
- Constitutive Signaling by Aberrant PI3K in Cancer
- Phospholipase C-mediated cascade: FGFR1
- Phospholipase C-mediated cascade; FGFR2
- Downstream signaling of activated FGFR1
- SHC-mediated cascade:FGFR1
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Signaling by FGFR2 in disease
- FGFRL1 modulation of FGFR1 signaling
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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FGF8 |
fibroblast growth factor 8 |
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- Hypogonadotropic hypogonadism; Kallmann syndrome (KAL)
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NDUFS6 |
NADH:ubiquinone oxidoreductase subunit S6 |
- Respiratory electron transport
- Complex I biogenesis
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- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
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NECTIN1 |
nectin cell adhesion molecule 1 |
- Adherens junctions interactions
- Nectin/Necl trans heterodimerization
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
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ARAP1 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
- Rho GTPase cycle
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
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ATF3 |
activating transcription factor 3 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
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BORA |
BORA aurora kinase A activator |
- Regulation of PLK1 Activity at G2/M Transition
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