Novel |
CHMP2A |
charged multivesicular body protein 2A |
- Budding and maturation of HIV virion
- Macroautophagy
- Lysosome Vesicle Biogenesis
- Pyroptosis
- Endosomal Sorting Complex Required For Transport (ESCRT)
- HCMV Late Events
- Late endosomal microautophagy
- Sealing of the nuclear envelope (NE) by ESCRT-III
- Translation of Replicase and Assembly of the Replication Transcription Complex
- Translation of Replicase and Assembly of the Replication Transcription Complex
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Novel |
CPS1 |
carbamoyl-phosphate synthase 1 |
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- Carbamoyl phosphate synthetase I deficiency
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Novel |
CYB561 |
cytochrome b561 |
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Novel |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
- Acyl chain remodeling of CL
- Beta oxidation of myristoyl-CoA to lauroyl-CoA
- mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
- Beta oxidation of palmitoyl-CoA to myristoyl-CoA
- Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
- Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
- Beta oxidation of octanoyl-CoA to hexanoyl-CoA
- Beta oxidation of hexanoyl-CoA to butanoyl-CoA
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- Disorders of fatty-acid oxidation, including: Medium-chain (MC) acyl-CoA dehydrogenase (AD) deficiency (MCADD); Short-chain AD deficiency (SCADD) ; Short-branched-chain AD deficiency (SBCADD) ; Very long-chain AD deficiency (VLCADD) ; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) ; Trifunctional protein deficiency (TFP); Carnitine palmitoyltransferase deficiency (CPT); Carnitine-acylcarnitine translocase deficiency (CACT); Systemic primary carnitine deficiency (CDSP)
- 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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Novel |
PPM1B |
protein phosphatase, Mg2+/Mn2+ dependent 1B |
- ISG15 antiviral mechanism
- ALK mutants bind TKIs
- Signaling by ALK fusions and activated point mutants
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Novel |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
- Triglyceride catabolism
- Downregulation of TGF-beta receptor signaling
- Regulation of PLK1 Activity at G2/M Transition
- RHO GTPases activate PKNs
- RHO GTPases activate PKNs
- RHO GTPases activate CIT
- RHO GTPases Activate ROCKs
- RHO GTPases activate PAKs
- RHO GTPases activate PAKs
- RAF activation
- SHOC2 M1731 mutant abolishes MRAS complex function
- Gain-of-function MRAS complexes activate RAF signaling
- Maturation of hRSV A proteins
- Phosphorylation and nuclear translocation of the CRY:PER:kinase complex
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Novel |
SLC28A2 |
solute carrier family 28 member 2 |
- Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
- Azathioprine ADME
- Ribavirin ADME
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Novel |
SRD5A2 |
steroid 5 alpha-reductase 2 |
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- Spironolactone
- Azelaic acid
- Dutasteride
- Finasteride
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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)
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Novel |
ZNF512 |
zinc finger protein 512 |
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AHR |
aryl hydrocarbon receptor |
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
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- Omeprazole
- Mexiletine
- Nimodipine
- Flutamide
- Atorvastatin
- Leflunomide
- Ginseng
- Indirubin-3'-monoxime
- Resveratrol
- Quercetin
- Tapinarof
- beta-Naphthoflavone
- Emodin
- 1-[(4S)-4-amino-5-(1,3-benzothiazol-2-yl)-5-oxopentyl]guanidine
- Diosmin
- Kynurenic Acid
- Epigallocatechin gallate
- Cantharidin
- Indirubin
- Carbendazim
- Indigo
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ANKRD11 |
ankyrin repeat domain containing 11 |
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AR |
androgen receptor |
- HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
- 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
- 4-{[(1R,2S)-1,2-dihydroxy-2-methyl-3-(4-nitrophenoxy)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
- Luprostiol
- 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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- Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease
- 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome; Hypospadias; Cryptorchidism
- Prostate cancer
- 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
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ARID1A |
AT-rich interaction domain 1A |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Positive Regulation of CDH1 Gene Transcription
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the canonical BAF (cBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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ARNT |
aryl hydrocarbon receptor nuclear translocator |
- Regulation of gene expression by Hypoxia-inducible Factor
- PPARA activates gene expression
- Phase I - Functionalization of compounds
- Endogenous sterols
- Xenobiotics
- Aryl hydrocarbon receptor signalling
- NPAS4 regulates expression of target genes
- NPAS4 regulates expression of target genes
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BCL3 |
BCL3 transcription coactivator |
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CARM1 |
coactivator associated arginine methyltransferase 1 |
- BMAL1:CLOCK,NPAS2 activates circadian expression
- PPARA activates gene expression
- PPARA activates gene expression
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- RMTs methylate histone arginines
- Transcriptional regulation of white adipocyte differentiation
- Regulation of lipid metabolism by PPARalpha
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- Estrogen-dependent gene expression
- Cytoprotection by HMOX1
- Heme signaling
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
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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)
- Drug-mediated inhibition of CDK4/CDK6 activity
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
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- Acetylsalicylic acid
- Arsenic trioxide
- Encorafenib
- Bryostatin 1
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- Breast cancer
- Hairy-cell leukemia
- Oral cancer
- Multiple myeloma
- Laryngeal cancer
- von Hippel-Lindau syndrome
- Esophageal cancer
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CIITA |
class II major histocompatibility complex transactivator |
- Interferon gamma signaling
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- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
- Bare lymphocyte syndrome (BLS) type2
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COPS5 |
COP9 signalosome subunit 5 |
- DNA Damage Recognition in GG-NER
- Formation of TC-NER Pre-Incision Complex
- Cargo recognition for clathrin-mediated endocytosis
- Neddylation
- GSK3B-mediated proteasomal degradation of PD-L1(CD274)
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CR2 |
complement C3d receptor 2 |
- Regulation of Complement cascade
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