Novel |
MITF |
melanocyte inducing transcription factor |
- SUMOylation of transcription factors
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- Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA)
- Waardenburg syndrome (WS)
- Malignant melanoma
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Novel |
TUFM |
Tu translation elongation factor, mitochondrial |
- Mitochondrial translation elongation
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- Zinc
- Guanosine-5'-Diphosphate
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Combined oxidative phosphorylation deficiency (COXPD)
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Novel |
CDK14 |
cyclin dependent kinase 14 |
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Novel |
CDX1 |
caudal type homeobox 1 |
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Novel |
CHRM3 |
cholinergic receptor muscarinic 3 |
- Muscarinic acetylcholine receptors
- Acetylcholine regulates insulin secretion
- G alpha (q) signalling events
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- Cevimeline
- Tramadol
- Succinylcholine
- Trospium
- Ziprasidone
- Disopyramide
- Amitriptyline
- Ipratropium
- Olanzapine
- Metixene
- Terfenadine
- Clozapine
- Doxylamine
- Trihexyphenidyl
- Oxyphencyclimine
- Procyclidine
- Loxapine
- Carbamoylcholine
- Hyoscyamine
- Cyproheptadine
- Meperidine
- Imipramine
- Methscopolamine bromide
- Chlorpromazine
- Darifenacin
- Haloperidol
- Tridihexethyl
- Anisotropine methylbromide
- Nortriptyline
- Amoxapine
- Cinnarizine
- Atropine
- Thiopental
- Nicardipine
- Paroxetine
- Homatropine methylbromide
- Trimipramine
- Scopolamine
- Benzquinamide
- Propiomazine
- Tropicamide
- Brompheniramine
- Maprotiline
- Methantheline
- Glycopyrronium
- Bethanechol
- Tolterodine
- Oxybutynin
- Promethazine
- Pilocarpine
- Doxepin
- Desipramine
- Ketamine
- Quetiapine
- Mivacurium
- Diphenidol
- Aripiprazole
- Chlorprothixene
- Pancuronium
- Pipecuronium
- Methotrimeprazine
- Tiotropium
- Solifenacin
- Isopropamide
- Acetylcholine
- Arecoline
- Mepenzolate
- ALKS 27
- Pizotifen
- Fesoterodine
- Methacholine
- Hexocyclium
- Aclidinium
- Umeclidinium
- Trimebutine
- Dosulepin
- Etoperidone
- Imidafenacin
- Butylscopolamine
- Homatropine
- Thonzylamine
- Revefenacin
- Propiverine
- Rociverine
- Diphemanil
- Aripiprazole lauroxil
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Novel |
FAXDC2 |
fatty acid hydroxylase domain containing 2 |
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Novel |
ITK |
IL2 inducible T cell kinase |
- Generation of second messenger molecules
- FCERI mediated Ca+2 mobilization
- FCERI mediated Ca+2 mobilization
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- Staurosporine
- Pazopanib
- Fostamatinib
- Zanubrutinib
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Novel |
PLAUR |
plasminogen activator, urokinase receptor |
- Attachment of GPI anchor to uPAR
- Neutrophil degranulation
- Dissolution of Fibrin Clot
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- Alteplase
- Urokinase
- Tenecteplase
- WX-UK1
- Lanoteplase
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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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EGFR |
epidermal growth factor receptor |
- Signaling by ERBB2
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Signaling by ERBB4
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB2 signaling
- PLCG1 events in ERBB2 signaling
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- GRB2 events in ERBB2 signaling
- PI3K events in ERBB2 signaling
- EGFR interacts with phospholipase C-gamma
- EGFR Transactivation by Gastrin
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signal transduction by L1
- Constitutive Signaling by EGFRvIII
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- ERBB2 Regulates Cell Motility
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- ERBB2 Activates PTK6 Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- PTK6 promotes HIF1A stabilization
- Downregulation of ERBB2 signaling
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Extra-nuclear estrogen signaling
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- HCMV Early Events
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
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- Cetuximab
- Lidocaine
- Gefitinib
- Erlotinib
- Lapatinib
- Panitumumab
- Alvocidib
- IGN311
- Matuzumab
- Vandetanib
- Rindopepimut
- Canertinib
- Pelitinib
- Varlitinib
- AV-412
- S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE
- PD-168393
- Afatinib
- Osimertinib
- Necitumumab
- Foreskin keratinocyte (neonatal)
- Depatuxizumab mafodotin
- Icotinib
- Neratinib
- Dacomitinib
- Fostamatinib
- Zalutumumab
- Brigatinib
- Olmutinib
- Zanubrutinib
- Abivertinib
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- Choriocarcinoma
- Gastric cancer
- Bladder cancer
- Oral cancer
- Glioma
- Laryngeal cancer
- Cervical cancer
- Esophageal cancer
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PTEN |
phosphatase and tensin homolog |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP3 and IP4 in the cytosol
- Negative regulation of the PI3K/AKT network
- Downstream TCR signaling
- TP53 Regulates Metabolic Genes
- PTEN Loss of Function in Cancer
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Regulation of PTEN mRNA translation
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Transcriptional Regulation by MECP2
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- Vulvar cancer
- Prostate cancer
- Endometrial Cancer
- Glioma
- Small cell lung cancer
- Breast cancer
- Hepatocellular carcinoma
- Malignant melanoma
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FGFR1 |
fibroblast growth factor receptor 1 |
- Signaling by activated point mutants of FGFR1
- Signaling by FGFR1 in disease
- Signaling by plasma membrane FGFR1 fusions
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- Palifermin
- Sorafenib
- Heparin
- 3-[4-(1-formylpiperazin-4-yl)-benzylidenyl]-2-indolinone
- XL999
- 3-(3-methoxybenzyl)-1H-pyrrolo[2,3-b]pyridine
- (E)-[4-(3,5-Difluorophenyl)-3H-pyrrolo[2,3-b]pyridin-3-ylidene](3-methoxyphenyl)methanol
- 3-[(3-(2-CARBOXYETHYL)-4-METHYLPYRROL-2-YL)METHYLENE]-2-INDOLINONE
- Regorafenib
- Ponatinib
- Lenvatinib
- Nintedanib
- Fostamatinib
- Erdafitinib
- Pemigatinib
- Selpercatinib
- Pralsetinib
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Hypogonadotropic hypogonadism; Kallmann syndrome (KAL)
- Osteoglophonic dysplasia (OD); Osteoglophonic dwarfism (OGD)
- Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
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CAV3 |
caveolin 3 |
- Smooth Muscle Contraction
- Smooth Muscle Contraction
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- Caveolinopathies, including: Limb-girdle muscular dystrophy (LGMD) 1C; Rippling muscle disease (RMD); Idiopathic hyperCKemia; Distal myopathy with decreased caveolin 3; Hypertrophic cardiomyopathy (HCM)
- Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
- Limb-girdle muscular dystrophy (LGMD)
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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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ITGB3 |
integrin subunit beta 3 |
- Platelet degranulation
- Elastic fibre formation
- PECAM1 interactions
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- Integrin cell surface interactions
- Syndecan interactions
- Syndecan interactions
- ECM proteoglycans
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- VEGFA-VEGFR2 Pathway
- Signal transduction by L1
- 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
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- Abciximab
- Eptifibatide
- Antithymocyte immunoglobulin (rabbit)
- Levothyroxine
- Tirofiban
- Resveratrol
- Lefradafiban
- LM-609
- Fradafiban
- Ferric maltol
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- Glanzmann thrombasthenia
- Allograft rejection
|
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PDGFB |
platelet derived growth factor subunit B |
- Platelet degranulation
- PIP3 activates AKT signaling
- Downstream signal transduction
- Signaling by PDGF
- Constitutive Signaling by Aberrant PI3K in Cancer
- Non-integrin membrane-ECM interactions
- RAF/MAP kinase cascade
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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- Malignant pleural mesothelioma
- Glioma
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
- Interleukin-6 signaling
- PI3K Cascade
- MAPK3 (ERK1) activation
- MAPK1 (ERK2) activation
- GPVI-mediated activation cascade
- Prolactin receptor signaling
- PIP3 activates AKT signaling
- Spry regulation of FGF signaling
- Signaling by SCF-KIT
- GAB1 signalosome
- Downstream signal transduction
- PECAM1 interactions
- Tie2 Signaling
- Constitutive Signaling by Aberrant PI3K in Cancer
- Signaling by Leptin
- Costimulation by the CD28 family
- CTLA4 inhibitory signaling
- PD-1 signaling
- Signal regulatory protein family interactions
- Netrin mediated repulsion signals
- Platelet sensitization by LDL
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- PI-3K cascade:FGFR1
- FRS-mediated FGFR1 signaling
- PI-3K cascade:FGFR2
- FRS-mediated FGFR2 signaling
- FRS-mediated FGFR3 signaling
- PI-3K cascade:FGFR3
- FRS-mediated FGFR4 signaling
- PI-3K cascade:FGFR4
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Regulation of IFNG signaling
- RET signaling
- Interleukin-20 family signaling
- MET activates PTPN11
- Regulation of RUNX1 Expression and Activity
- Interleukin-37 signaling
- Activated NTRK2 signals through FRS2 and FRS3
- Interferon alpha/beta signaling
- Regulation of IFNA signaling
- Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
- FLT3 Signaling
- STAT5 Activation
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 ITD and TKD mutants
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- 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)
- Metachondromatosis
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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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ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
- RAF activation
- 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
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by MRAS-complex mutants
|
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- 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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