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 |
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 |
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 |
ENPP7 |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
- Glycosphingolipid metabolism
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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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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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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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HRAS |
HRas proto-oncogene, GTPase |
- SOS-mediated signalling
- Activation of RAS in B cells
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- SHC1 events in ERBB2 signaling
- SHC1 events in ERBB4 signaling
- Signaling by SCF-KIT
- Signalling to RAS
- p38MAPK events
- p38MAPK events
- GRB2 events in EGFR signaling
- SHC1 events in EGFR signaling
- Downstream signal transduction
- GRB2 events in ERBB2 signaling
- GRB2 events in ERBB2 signaling
- Tie2 Signaling
- EGFR Transactivation by Gastrin
- DAP12 signaling
- SHC-related events triggered by IGF1R
- FCERI mediated MAPK activation
- NCAM signaling for neurite out-growth
- EPHB-mediated forward signaling
- Ras activation upon Ca2+ influx through NMDA receptor
- VEGFR2 mediated cell proliferation
- CD209 (DC-SIGN) signaling
- Constitutive Signaling by EGFRvIII
- SHC-mediated cascade:FGFR1
- FRS-mediated FGFR1 signaling
- SHC-mediated cascade:FGFR2
- FRS-mediated FGFR2 signaling
- SHC-mediated cascade:FGFR3
- FRS-mediated FGFR3 signaling
- FRS-mediated FGFR4 signaling
- SHC-mediated cascade:FGFR4
- Signaling by FGFR2 in disease
- Signaling by FGFR4 in disease
- Signaling by FGFR1 in disease
- Regulation of RAS by GAPs
- RAF activation
- RAF/MAP kinase cascade
- 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
- RAS signaling downstream of NF1 loss-of-function variants
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Insulin receptor signalling cascade
- PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
- MET activates RAS signaling
- Signaling by FGFR3 fusions in cancer
- Signaling by FGFR3 point mutants in cancer
- Activated NTRK2 signals through RAS
- Erythropoietin activates RAS
- Activated NTRK2 signals through FRS2 and FRS3
- Activated NTRK3 signals through RAS
- FLT3 Signaling
- Constitutive Signaling by Overexpressed ERBB2
- Estrogen-stimulated signaling through PRKCZ
- RAS processing
- RAS GTPase cycle mutants
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by ERBB2 KD Mutants
- Signaling by ERBB2 ECD mutants
- Signaling by ERBB2 TMD/JMD mutants
- 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
- Signaling by FLT3 fusion proteins
- Signaling by FLT3 ITD and TKD mutants
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- Hexane-1,6-Diol
- Trifluoroethanol
- Guanosine-5'-Triphosphate
- Guanosine-5'-Diphosphate
- N,N'-DIMETHYL-N-(ACETYL)-N'-(7-NITROBENZ-2-OXA-1,3-DIAZOL-4-YL)ETHYLENEDIAMINE
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- Bladder cancer
- Penile cancer
- Squamous cell carcinoma
- Thyroid cancer
- Cervical cancer
- Hepatocellular carcinoma
- 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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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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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
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- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
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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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FLNA |
filamin A |
- Platelet degranulation
- GP1b-IX-V activation signalling
- Cell-extracellular matrix interactions
- RHO GTPases activate PAKs
- OAS antiviral response
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
- Periventricular nodular heterotopia (PVNH)
- FG syndrome (FGS); Opitz-Kaveggia syndrome
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PROM1 |
prominin 1 |
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- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
- Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
- Stargardt disease (STGD); Fundus flavimaculatus
- Retinitis pigmentosa (RP)
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RET |
ret proto-oncogene |
- RAF/MAP kinase cascade
- RET signaling
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- Sorafenib
- 1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine
- Vandetanib
- Cabozantinib
- Regorafenib
- Ponatinib
- Lenvatinib
- Fostamatinib
- Amuvatinib
- Selpercatinib
- Pralsetinib
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- Hirschsprung disease (HD)
- Renal agenesis and Renal adysplasia
- Thyroid cancer
- Congenital central hypoventilation syndrome (CCHS)
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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- Cannabidiol
- Butamben
- Medical Cannabis
- Nabiximols
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- Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
- TRPV4-related skeletal dysplasias, including: Autosomal dominant brachyolmia; Spondylometaphyseal dysplasia, Kozlowski type (SMDK); Metatropic dysplasia; Spondyloepiphyseal dysplasia, Maroteaux type ; Parastremmatic dysplasia
- TRPV4-related peripheral neuropathies, including: Congenital distal spinal muscular atrophy (CDSMA); Scapuloperoneal spinal muscle atrophy (SPSMA); Hereditary motor and sensory neuropathy type IIC (HMSN IIC)
- Distal hereditary motor neuropathies (dHMN)
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