ETFA - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	BNC1	basonuclin zinc finger protein 1
Novel	CHRNA3	cholinergic receptor nicotinic alpha 3 subunit	Highly sodium permeable postsynaptic acetylcholine nicotinic receptors Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine receptors	Nicotine Succinylcholine Butabarbital Methadone Fluoxetine Dextromethorphan Cisatracurium Levamisole Ethanol Amantadine Pentolinium Bupropion Levacetylmethadol Varenicline Gantacurium Epibatidine Cytisine
Novel	COX7C	cytochrome c oxidase subunit 7C	TP53 Regulates Metabolic Genes Respiratory electron transport Cytoprotection by HMOX1 Complex IV assembly	Cholic Acid N-Formylmethionine
Novel	CSK	C-terminal Src kinase	GAB1 signalosome Phosphorylation of CD3 and TCR zeta chains Integrin signaling Co-inhibition by PD-1 MAP2K and MAPK activation Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF RHOH GTPase cycle Signaling downstream of RAS mutants Signaling by RAF1 mutants Negative regulation of FLT3	Dasatinib Staurosporine TG-100801 Fostamatinib
Novel	CYP11A1	cytochrome P450 family 11 subfamily A member 1	Pregnenolone biosynthesis Endogenous sterols Defective CYP11A1 causes AICSR	Aminoglutethimide Levoketoconazole	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)
Novel	FAH	fumarylacetoacetate hydrolase	Tyrosine catabolism	Fumaric acid Acetoacetic acid 4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid	Tyrosinemia; Tyrosinemia, type I; Tyrosinemia, type II; Tyrosinemia, type III; Hawkinsinuria
Novel	LINC00597	long intergenic non-protein coding RNA 597
Novel	MOV10L1	Mov10 like RNA helicase 1	PIWI-interacting RNA (piRNA) biogenesis
Novel	TNFRSF11A	TNF receptor superfamily member 11a	TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	ENMD-1198	Osteopetrosis, including: Osteopetrosis, severe neonatal or infantile forms; Osteopetrosis, intermediate forms; Osteopetrosis with renal tubular acidosis; Osteopetrosis, late-onset form type 1; Osteopetrosis, late-onset form type 2; Osteopetrosis, osteoclast poor Paget's disease of bone and related disorders, including: ; Paget's disease of bone (PDB); Familial expansile osteolysis (FEO); Early-onset Paget's disease of bone (PDB2); Expansile skeletal hyperphosphatasia (ESH); Juvenile Paget's disease (JPD)
Novel	VCAM1	vascular cell adhesion molecule 1	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Integrin cell surface interactions Interleukin-4 and Interleukin-13 signaling Interferon gamma signaling	Ethanol Carvedilol Succinobucol Clove oil
	CDC42	cell division cycle 42	GPVI-mediated activation cascade EGFR downregulation Regulation of actin dynamics for phagocytic cup formation Regulation of actin dynamics for phagocytic cup formation CD28 dependent Vav1 pathway EPHB-mediated forward signaling EPHB-mediated forward signaling DCC mediated attractive signaling Inactivation of CDC42 and RAC1 VEGFA-VEGFR2 Pathway Myogenesis Myogenesis RHO GTPases activate KTN1 RHO GTPases activate IQGAPs RHO GTPases activate PAKs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate Formins RHO GTPases Activate Formins MAPK6/MAPK4 signaling Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation G beta:gamma signalling through CDC42 CDC42 GTPase cycle RAC1 GTPase cycle RAC2 GTPase cycle RHOQ GTPase cycle RHOG GTPase cycle RHOJ GTPase cycle RHOU GTPase cycle RAC3 GTPase cycle RHOV GTPase cycle FCGR3A-mediated phagocytosis FCGR3A-mediated phagocytosis Factors involved in megakaryocyte development and platelet production	Aminophosphonic acid-guanylate ester Guanosine-5'-Diphosphate
	CFTR	CF transmembrane conductance regulator	ABC-family proteins mediated transport RHO GTPases regulate CFTR trafficking Defective CFTR causes cystic fibrosis Ub-specific processing proteases Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis RHOQ GTPase cycle Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy Developmental Lineage of Pancreatic Ductal Cells	ATP Bumetanide Glyburide Ibuprofen Genistein Colforsin Phosphoaminophosphonic Acid-Adenylate Ester Dexfosfoserine Crofelemer Lonidamine Ivacaftor Dexibuprofen Lumacaftor Tezacaftor Elexacaftor	Hereditary pancreatitis; Hereditary chronic pancreatitis Cystic fibrosis (CF) Congenital bilateral absence of vas deferens
	ETFB	electron transfer flavoprotein subunit beta	Respiratory electron transport Protein methylation		Glutaric acidemia; Glutaric acidemia, type I (GA1); Glutaric acidemia, type II (GA2); Multiple acyl coenzyme A dehydrogenase deficiency
	FBXL17	F-box and leucine rich repeat protein 17	Regulation of BACH1 activity
	HSPB2	heat shock protein family B (small) member 2
	PSEN1	presenilin 1	Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 TGFBR3 PTM regulation		Alzheimer's disease (AD) Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3) Acne inversa; Hidradenitis supprativa
	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		von Hippel-Lindau syndrome Congenital polycythemia; Familial erythrocytosis (ECYT) Renal cell carcinoma

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