Novel |
ENDOU |
endonuclease, poly(U) specific |
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Novel |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Neurexins and neuroligins
- Synaptic adhesion-like molecules
- Assembly and cell surface presentation of NMDA receptors
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
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- Glutamic acid
- Tramadol
- Enflurane
- Atomoxetine
- Pentobarbital
- Methadone
- Secobarbital
- Meperidine
- Acamprosate
- Donepezil
- Guaifenesin
- Memantine
- Memantine
- Orphenadrine
- Phenobarbital
- Aripiprazole
- Prasterone
- 5,7-Dichlorokynurenic acid
- D-Serine
- Cycloleucine
- Milnacipran
- CNS-5161
- Acetylcysteine
- Ketobemidone
- Gavestinel
- Agmatine
- Ifenprodil
- Magnesium acetate tetrahydrate
- Magnesium carbonate
- Esketamine
- Fluciclovine (18F)
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Novel |
HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
- FGFR2 alternative splicing
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
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Novel |
RAPGEF3 |
Rap guanine nucleotide exchange factor 3 |
- Integrin signaling
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Rap1 signalling
- Regulation of insulin secretion
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Novel |
REG1A |
regenerating family member 1 alpha |
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- N-acetyl-alpha-neuraminic acid
- Dexfosfoserine
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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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RB1 |
RB transcriptional corepressor 1 |
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- Inhibition of replication initiation of damaged DNA by RB1/E2F1
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Condensation of Prophase Chromosomes
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- Cyclin A:Cdk2-associated events at S phase entry
- RUNX2 regulates osteoblast differentiation
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- Defective translocation of RB1 mutants to the nucleus
- Replication of the SARS-CoV-1 genome
- Aberrant regulation of mitotic exit in cancer due to RB1 defects
- Replication of the SARS-CoV-2 genome
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- Insulin human
- Insulin pork
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- Bladder cancer
- Small cell lung cancer
- Glioma
- Osteosarcoma
- Breast cancer
- Esophageal cancer
- Hepatocellular carcinoma
- Chronic myeloid leukemia (CML)
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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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CTNNB1 |
catenin beta 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- TCF dependent signaling in response to WNT
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Apoptotic cleavage of cell adhesion proteins
- Deactivation of the beta-catenin transactivating complex
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Ca2+ pathway
- Adherens junctions interactions
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- VEGFR2 mediated vascular permeability
- Myogenesis
- Myogenesis
- Signaling by GSK3beta mutants
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- RHO GTPases activate IQGAPs
- Transcriptional Regulation by VENTX
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX3 regulates WNT signaling
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- Gastric cancer
- Colorectal cancer
- Endometrial Cancer
- Pilomatricoma; Epithelioma calcificans of Malherbe
- Thyroid cancer
- Hepatocellular carcinoma
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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
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- 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
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SMAD4 |
SMAD family member 4 |
- Signaling by NODAL
- Signaling by Activin
- Signaling by BMP
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- RUNX2 regulates bone development
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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- Colorectal cancer
- Hereditary hemorrhagic telangiectasia (HHT)
- Pancreatic cancer
- Juvenile polyposis syndrome
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MSX1 |
msh homeobox 1 |
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Tooth agenesis; Hypodontia
- Tooth and nail syndrome; Witkop syndrome
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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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BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- 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
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
- 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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- Breast cancer
- Ovarian cancer
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GATA1 |
GATA binding protein 1 |
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Factors involved in megakaryocyte development and platelet production
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Congenital dyserythropoietic anemias (CDAs)
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MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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- Neuroblastoma
- Feingold syndrome
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Transcriptional regulation of pluripotent stem cells
- Transcriptional regulation of testis differentiation
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- (2R)-3-{[{[(2S)-2,3-DIHYDROXYPROPYL]OXY}(HYDROXY)PHOSPHORYL]OXY}-2-[(9E)-HEXADEC-9-ENOYLOXY]PROPYL (9E)-OCTADEC-9-ENOATE
- Phosphatidyl ethanol
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- Premature ovarian failure
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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RARA |
retinoic acid receptor alpha |
- Nuclear Receptor transcription pathway
- SUMOylation of intracellular receptors
- Signaling by Retinoic Acid
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
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- Adapalene
- Acitretin
- Alitretinoin
- Tretinoin
- Tazarotene
- Etretinate
- Isotretinoin
- Tamibarotene
- LGD-1550
- Trifarotene
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- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Acute myeloid leukemia (AML)
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SOX10 |
SRY-box transcription factor 10 |
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
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- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Waardenburg syndrome (WS)
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