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
BPGM and CEL	bisphosphoglycerate mutase	carboxyl ester lipase	Glycolysis				Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BPGM and GAPDH	bisphosphoglycerate mutase	glyceraldehyde-3-phosphate dehydrogenase	Glycolysis	Glycolysis Gluconeogenesis		NADH Adenosine-5-Diphosphoribose Thionicotinamide-Adenine-Dinucleotide 4-(2-Aminoethyl)Benzenesulfonyl Fluoride Xanthinol Copper	Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BPGM and GRB2	bisphosphoglycerate mutase	growth factor receptor bound protein 2	Glycolysis	Interleukin-15 signaling Interleukin-15 signaling		Pegademase bovine 4-[(10s,14s,18s)-18-(2-Amino-2-Oxoethyl)-14-(1-Naphthylmethyl)-8,17,20-Trioxo-7,16,19-Triazaspiro[5.14]Icos-11-En-10-Yl]Benzylphosphonic Acid	Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BPGM and EGR2	bisphosphoglycerate mutase	early growth response 2	Glycolysis	Transcriptional regulation of white adipocyte differentiation Activation of anterior HOX genes in hindbrain development during early embryogenesis NGF-stimulated transcription NGF-stimulated transcription EGR2 and SOX10-mediated initiation of Schwann cell myelination EGR2 and SOX10-mediated initiation of Schwann cell myelination			Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency	Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
BPGM and ATF6	bisphosphoglycerate mutase	activating transcription factor 6	Glycolysis	ATF4 activates genes in response to endoplasmic reticulum stress ATF6 (ATF6-alpha) activates chaperones ATF6 (ATF6-alpha) activates chaperone genes ATF6 (ATF6-alpha) activates chaperone genes		Pseudoephedrine	Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BPGM and NEK3	bisphosphoglycerate mutase	NIMA related kinase 3	Glycolysis				Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BPGM and EHD2	bisphosphoglycerate mutase	EH domain containing 2	Glycolysis	Factors involved in megakaryocyte development and platelet production			Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency
BRCA1 and POMGNT1	BRCA1 DNA repair associated	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Meiotic synapsis SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) 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 TP53 Regulates Transcription of DNA Repair Genes Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Transcriptional Regulation by E2F6 Meiotic recombination	Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 O-linked glycosylation			Breast cancer Ovarian cancer	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)
BRAF and YWHAZ	B-Raf proto-oncogene, serine/threonine kinase	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	Spry regulation of FGF signaling Frs2-mediated activation Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway 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 Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Deactivation of the beta-catenin transactivating complex Rap1 signalling GP1b-IX-V activation signalling KSRP (KHSRP) binds and destabilizes mRNA Interleukin-3, Interleukin-5 and GM-CSF signaling RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex NOTCH4 Activation and Transmission of Signal to the Nucleus Negative regulation of NOTCH4 signaling Regulation of localization of FOXO transcription factors	Sorafenib XL281 N-{3-[(5-chloro-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]-2,4-difluorophenyl}propane-1-sulfonamide N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide (1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime Vemurafenib Regorafenib Dabrafenib	Phenethyl Isothiocyanate	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) Thyroid cancer Malignant melanoma
BRCA2 and PLEC	BRCA2 DNA repair associated	plectin	HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Presynaptic phase of homologous DNA pairing and strand exchange Meiotic recombination	Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins Type I hemidesmosome assembly			Fanconi anemia Pancreatic cancer Breast cancer Ovarian cancer	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 Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB); Epidermolysis bullosa simplex with pyloric atresia (EBS-PA); Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD); Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
BRCA2 and UQCC1	BRCA2 DNA repair associated	ubiquinol-cytochrome c reductase complex assembly factor 1	HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Presynaptic phase of homologous DNA pairing and strand exchange Meiotic recombination				Fanconi anemia Pancreatic cancer Breast cancer Ovarian cancer
BST1 and LBP	bone marrow stromal cell antigen 1	lipopolysaccharide binding protein	Post-translational modification: synthesis of GPI-anchored proteins Nicotinate metabolism Neutrophil degranulation	Toll Like Receptor 4 (TLR4) Cascade Transfer of LPS from LBP carrier to CD14 Regulation of TLR by endogenous ligand Interleukin-4 and Interleukin-13 signaling	Etheno-Nad Nicotinamide Adenosine 5'-[Î³-thio]triphosphate Nicotinamide Mononucleotide Etheno-Nadp
BTK and HCK	Bruton tyrosine kinase	HCK proto-oncogene, Src family tyrosine kinase	ER-Phagosome pathway MyD88:MAL(TIRAP) cascade initiated on plasma membrane Regulation of actin dynamics for phagocytic cup formation DAP12 signaling FCERI mediated Ca+2 mobilization FCERI mediated Ca+2 mobilization G alpha (q) signalling events G alpha (12/13) signalling events MyD88 deficiency (TLR2/4) IRAK4 deficiency (TLR2/4) RHO GTPases Activate WASPs and WAVEs G beta:gamma signalling through BTK FCGR3A-mediated phagocytosis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	Nef and signal transduction FCGR activation Regulation of signaling by CBL Regulation of signaling by CBL FLT3 Signaling FCGR3A-mediated IL10 synthesis FCGR3A-mediated phagocytosis	Dasatinib Inositol 1,3,4,5-Tetrakisphosphate XL418 Ibrutinib Acalabrutinib	1-Ter-Butyl-3-P-Tolyl-1h-Pyrazolo[3,4-D]Pyrimidin-4-Ylamine Phosphonotyrosine Quercetin Bosutinib	Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8 Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
BYSL and TRAF4	bystin like	TNF receptor associated factor 4	Major pathway of rRNA processing in the nucleolus and cytosol
BYSL and LMNA	bystin like	lamin A/C	Major pathway of rRNA processing in the nucleolus and cytosol	XBP1(S) activates chaperone genes Signaling by BRAF and RAF fusions				Restrictive dermopathy Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy (DCM) Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy Mandibuloacral dysplasia 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 Limb-girdle muscular dystrophy (LGMD) Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy Hutchinson-Gilford progeria syndrome
C1QA and NLGN3	complement C1q A chain	neuroligin 3	Initial triggering of complement Classical antibody-mediated complement activation Regulation of Complement cascade	Neurexins and neuroligins Neurexins and neuroligins	Cetuximab Etanercept Adalimumab Abciximab Gemtuzumab ozogamicin Trastuzumab Rituximab Basiliximab Muromonab Ibritumomab tiuxetan Tositumomab Alemtuzumab Alefacept Efalizumab Natalizumab Palivizumab Daclizumab Bevacizumab		Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency; C1q beta-chain deficiency; C1q gamma-chain deficiency; C1r deficiency; C1s deficiency; C2 deficiency; C3 deficiency; C4 deficiency
C4BPA and LBP	complement component 4 binding protein alpha	lipopolysaccharide binding protein	Regulation of Complement cascade	Toll Like Receptor 4 (TLR4) Cascade Transfer of LPS from LBP carrier to CD14 Regulation of TLR by endogenous ligand Interleukin-4 and Interleukin-13 signaling	Zinc Copper		Complement regulatory protein defects, including the following six diseases: C1 inhibitor deficiency (hereditary angioedema); C4 binding protein alpha deficiency; C4 binding protein beta deficiency; Factor I deficiency; Decay-accelerating factor (CD55) deficiency; CD59 deficiency
C5 and LMNA	complement C5	lamin A/C	Terminal pathway of complement Activation of C3 and C5 Peptide ligand-binding receptors G alpha (i) signalling events Regulation of Complement cascade	XBP1(S) activates chaperone genes Signaling by BRAF and RAF fusions	Immune Globulin Human Eculizumab Zinc Copper		Late complement pathway defects, including the following seven diseases: C5 deficiency; C6 deficiency; C7 deficiency; C8 alpha-chain deficiency; C8 beta-chain deficiency; C8 gamma-chain deficiency; C9 deficiency	Restrictive dermopathy Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy (DCM) Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy Mandibuloacral dysplasia 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 Limb-girdle muscular dystrophy (LGMD) Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy Hutchinson-Gilford progeria syndrome
C5AR1 and RPS19	complement C5a receptor 1	ribosomal protein S19	Peptide ligand-binding receptors G alpha (i) signalling events Neutrophil degranulation Regulation of Complement cascade	L13a-mediated translational silencing of Ceruloplasmin expression Peptide chain elongation SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Selenocysteine synthesis Major pathway of rRNA processing in the nucleolus and cytosol Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit Eukaryotic Translation Termination Regulation of expression of SLITs and ROBOs Response of EIF2AK4 (GCN2) to amino acid deficiency Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)		Artenimol		Diamond-Blackfan anemia (DBA)
MRPL49 and OXA1L	mitochondrial ribosomal protein L49	OXA1L mitochondrial inner membrane protein	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination

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