| Novel |
BIRC2
|
baculoviral IAP repeat containing 2 |
- Apoptotic cleavage of cellular proteins
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIPK1-mediated regulated necrosis
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- TNFR2 non-canonical NF-kB pathway
- Regulation of necroptotic cell death
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
- Ub-specific processing proteases
- IKK complex recruitment mediated by RIP1
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|
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| Novel |
BIRC3
|
baculoviral IAP repeat containing 3 |
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIPK1-mediated regulated necrosis
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- TNFR2 non-canonical NF-kB pathway
- Regulation of necroptotic cell death
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
- Ub-specific processing proteases
- IKK complex recruitment mediated by RIP1
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|
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| Novel |
CNTN5
|
contactin 5 |
- Post-translational modification: synthesis of GPI-anchored proteins
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|
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| Novel |
CORO2A
|
coronin 2A |
|
|
|
| Novel |
LILRB2
|
leukocyte immunoglobulin like receptor B2 |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- Neutrophil degranulation
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|
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| Novel |
PBRM1
|
polybromo 1 |
- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Formation of the polybromo-BAF (pBAF) complex
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|
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| Novel |
RDH5
|
retinol dehydrogenase 5 |
- The canonical retinoid cycle in rods (twilight vision)
- RA biosynthesis pathway
- Defective visual phototransduction due to RDH5 loss of function
|
|
- Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
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CYCS
|
cytochrome c, somatic |
- Release of apoptotic factors from the mitochondria
- Formation of apoptosome
- Activation of caspases through apoptosome-mediated cleavage
- SMAC (DIABLO) binds to IAPs
- SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
- Transcriptional activation of mitochondrial biogenesis
- Detoxification of Reactive Oxygen Species
- Pyroptosis
- TP53 Regulates Metabolic Genes
- Respiratory electron transport
- Regulation of the apoptosome activity
- Regulation of the apoptosome activity
- Cytoprotection by HMOX1
|
- Minocycline
- Protoporphyrin Ix Containing Co
- Ferroheme C
- Imidazole
- Zinc protoporphyrin
- Trimethyllysine
- Zinc Substituted Heme C
- Artenimol
|
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
|
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CYP11A1
|
cytochrome P450 family 11 subfamily A member 1 |
- Pregnenolone biosynthesis
- Endogenous sterols
- Defective CYP11A1 causes AICSR
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- Aminoglutethimide
- Levoketoconazole
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- Congenital adrenal hyperplasia (CAH)
- 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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CYP11B2
|
cytochrome P450 family 11 subfamily B member 2 |
- Mineralocorticoid biosynthesis
- Glucocorticoid biosynthesis
- Endogenous sterols
- Defective CYP11B2 causes CMO-1 deficiency
|
- Spironolactone
- Levoketoconazole
- Osilodrostat
|
- Aldosterone synthase deficiency; Corticosterone methyloxidase type I deficiency; Corticosterone methyloxidase type II deficiency
- Glucocorticoid-remediable aldosteronism (GRA)
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FDXR
|
ferredoxin reductase |
- Pregnenolone biosynthesis
- Endogenous sterols
- Electron transport from NADPH to Ferredoxin
- Defective CYP11A1 causes AICSR
|
- Flavin adenine dinucleotide
- Nicotinamide adenine dinucleotide phosphate
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PRKAB2
|
protein kinase AMP-activated non-catalytic subunit beta 2 |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Macroautophagy
- AMPK inhibits chREBP transcriptional activation activity
- AMPK inhibits chREBP transcriptional activation activity
- Carnitine shuttle
- Activation of PPARGC1A (PGC-1alpha) by phosphorylation
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- Regulation of TP53 Activity through Phosphorylation
- Lipophagy
- Activation of AMPK downstream of NMDARs
- AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)
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- Adenosine phosphate
- Acetylsalicylic acid
- Fostamatinib
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