Respiratory - Wiki-CORONA

Symbols	Name 1	Name 2	Pathways 1 Hide	Pathways 2 Hide	Drugs 1 Hide	Drugs 2 Hide	Diseases 1 Hide	Diseases 2 Hide
POMT1 and POMT2	protein O-mannosyltransferase 1	protein O-mannosyltransferase 2	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 O-linked glycosylation	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 O-linked glycosylation			Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD)	Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD)
RBCK1 and NDUFAF3	RANBP2-type and C3HC4-type zinc finger containing 1	NADH:ubiquinone oxidoreductase complex assembly factor 3	Regulation of TNFR1 signaling TNFR1-induced NFkappaB signaling pathway Antigen processing: Ubiquitination & Proteasome degradation	Complex I biogenesis				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
NOXA1 and NCF1	NADPH oxidase activator 1	neutrophil cytosolic factor 1	RHO GTPases Activate NADPH Oxidases WNT5:FZD7-mediated leishmania damping	ROS and RNS production in phagocytes Cross-presentation of particulate exogenous antigens (phagosomes) Detoxification of Reactive Oxygen Species VEGFA-VEGFR2 Pathway RHO GTPases Activate NADPH Oxidases		Dextromethorphan		Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
NOXA1 and NOXO1	NADPH oxidase activator 1	NADPH oxidase organizer 1	RHO GTPases Activate NADPH Oxidases WNT5:FZD7-mediated leishmania damping	RHO GTPases Activate NADPH Oxidases WNT5:FZD7-mediated leishmania damping		Ecabet
NOXA1 and NOX1	NADPH oxidase activator 1	NADPH oxidase 1	RHO GTPases Activate NADPH Oxidases WNT5:FZD7-mediated leishmania damping	RHO GTPases Activate NADPH Oxidases WNT5:FZD7-mediated leishmania damping		Oxygen
GNL3LP1 and NDUFAF2	G protein nucleolar 3 like pseudogene 1	NADH:ubiquinone oxidoreductase complex assembly factor 2		Complex I biogenesis				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
NDUFA13 and XRN1	NADH:ubiquinone oxidoreductase subunit A13	5'-3' exoribonuclease 1	Respiratory electron transport Complex I biogenesis	mRNA decay by 5' to 3' exoribonuclease Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA	NADH
NDUFA13 and EXOSC6	NADH:ubiquinone oxidoreductase subunit A13	exosome component 6	Respiratory electron transport Complex I biogenesis	ATF4 activates genes in response to endoplasmic reticulum stress mRNA decay by 3' to 5' exoribonuclease Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA Major pathway of rRNA processing in the nucleolus and cytosol	NADH
COX16 and SMOC1	cytochrome c oxidase assembly factor COX16	SPARC related modular calcium binding 1	TP53 Regulates Metabolic Genes Respiratory electron transport
CYB5R1 and CYCS	cytochrome b5 reductase 1	cytochrome c, somatic	Platelet degranulation Erythrocytes take up carbon dioxide and release oxygen	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 TP53 Regulates Metabolic Genes Respiratory electron transport Regulation of the apoptosome activity Regulation of the apoptosome activity	Flavin adenine dinucleotide	Minocycline Protoporphyrin Ix Containing Co Heme C Imidazole Protoporphyrin Ix Containing Zn N-Trimethyllysine Zinc Substituted Heme C		Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
CYCS and KRT40	cytochrome c, somatic	keratin 40	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 TP53 Regulates Metabolic Genes Respiratory electron transport Regulation of the apoptosome activity Regulation of the apoptosome activity	Keratinization Formation of the cornified envelope	Minocycline Protoporphyrin Ix Containing Co Heme C Imidazole Protoporphyrin Ix Containing Zn N-Trimethyllysine Zinc Substituted Heme C		Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
NDUFB11 and FATE1	NADH:ubiquinone oxidoreductase subunit B11	fetal and adult testis expressed 1	Respiratory electron transport Complex I biogenesis
TTC19 and L3MBTL3	tetratricopeptide repeat domain 19	L3MBTL histone methyl-lysine binding protein 3					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
TTC19 and SPRED1	tetratricopeptide repeat domain 19	sprouty related EVH1 domain containing 1		Regulation of RAS by GAPs FGFRL1 modulation of FGFR1 signaling RAS signaling downstream of NF1 loss-of-function variants			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	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)
TTC19 and UPF3B	tetratricopeptide repeat domain 19	UPF3B regulator of nonsense mediated mRNA decay		Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Regulation of expression of SLITs and ROBOs Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)			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	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)
TTC19 and IHO1	tetratricopeptide repeat domain 19	interactor of HORMAD1 1					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
TTC19 and HPS6	tetratricopeptide repeat domain 19	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3					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
TTC19 and CCDC33	tetratricopeptide repeat domain 19	coiled-coil domain containing 33					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
TTC19 and EIF4ENIF1	tetratricopeptide repeat domain 19	eukaryotic translation initiation factor 4E nuclear import factor 1					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
CUL9 and CYCS	cullin 9	cytochrome c, somatic	Neddylation	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 TP53 Regulates Metabolic Genes Respiratory electron transport Regulation of the apoptosome activity Regulation of the apoptosome activity		Minocycline Protoporphyrin Ix Containing Co Heme C Imidazole Protoporphyrin Ix Containing Zn N-Trimethyllysine Zinc Substituted Heme C		Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)

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