SFTPB and GRPEL1 |
surfactant protein B |
GrpE like 1, mitochondrial |
- Surfactant metabolism
- Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Mitochondrial protein import
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and SMIM3 |
surfactant protein C |
small integral membrane protein 3 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and PQBP1 |
surfactant protein C |
polyglutamine binding protein 1 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- mRNA Splicing - Major Pathway
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Non-syndromic X-linked mental retardation
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SFTPC and SYNE4 |
surfactant protein C |
spectrin repeat containing nuclear envelope family member 4 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and SEC22A |
surfactant protein C |
SEC22 homolog A, vesicle trafficking protein |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- COPII-mediated vesicle transport
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and WWP1 |
surfactant protein C |
WW domain containing E3 ubiquitin protein ligase 1 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Downregulation of ERBB4 signaling
- Stimuli-sensing channels
- Regulation of RUNX2 expression and activity
- Antigen processing: Ubiquitination & Proteasome degradation
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and WWP2 |
surfactant protein C |
WW domain containing E3 ubiquitin protein ligase 2 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Regulation of PTEN stability and activity
- NOTCH3 Activation and Transmission of Signal to the Nucleus
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and SEC61G |
surfactant protein C |
SEC61 translocon subunit gamma |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- ER-Phagosome pathway
- SRP-dependent cotranslational protein targeting to membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and TMEM79 |
surfactant protein C |
transmembrane protein 79 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SFTPC and CREB3 |
surfactant protein C |
cAMP responsive element binding protein 3 |
- Surfactant metabolism
- Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
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- CREB3 factors activate genes
- CREB3 factors activate genes
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- Pulmonary surfactant metabolism dysfunction (SMDP)
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SCAP and NDUFAF3 |
SREBF chaperone |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
- Regulation of cholesterol biosynthesis by SREBP (SREBF)
- Regulation of cholesterol biosynthesis by SREBP (SREBF)
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- 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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SNCA and CYCS |
synuclein alpha |
cytochrome c, somatic |
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- 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
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- Minocycline
- Protoporphyrin Ix Containing Co
- Heme C
- Imidazole
- Protoporphyrin Ix Containing Zn
- N-Trimethyllysine
- Zinc Substituted Heme C
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- Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
- Parkinson's disease (PD)
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- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
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SNRPA and NDUFAF3 |
small nuclear ribonucleoprotein polypeptide A |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
- mRNA Splicing - Major Pathway
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- 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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SOX5 and UQCRFS1 |
SRY-box transcription factor 5 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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- Respiratory electron transport
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- 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
- 5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole
- METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE
- 5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE
- (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE
- FAMOXADONE
- METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE
- 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE
- UBIQUINONE-2
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STAT3 and NDUFA13 |
signal transducer and activator of transcription 3 |
NADH:ubiquinone oxidoreductase subunit A13 |
- Interleukin-6 signaling
- BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
- Interleukin-7 signaling
- Interleukin-7 signaling
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Signalling to STAT3
- Senescence-Associated Secretory Phenotype (SASP)
- Signaling by Leptin
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Association of TriC/CCT with target proteins during biosynthesis
- Transcriptional regulation of pluripotent stem cells
- Interleukin-10 signaling
- Interleukin-4 and Interleukin-13 signaling
- PTK6 Activates STAT3
- PTK6 Activates STAT3
- Interleukin-20 family signaling
- MET activates STAT3
- MET activates STAT3
- Interleukin-15 signaling
- Interleukin-35 Signalling
- Interleukin-9 signaling
- Interleukin-37 signaling
- Interleukin-23 signaling
- Interleukin-23 signaling
- Interleukin-27 signaling
- Interleukin-21 signaling
- Transcriptional regulation of granulopoiesis
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Growth hormone receptor signaling
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- Respiratory electron transport
- Complex I biogenesis
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- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Oral cancer
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PRDX2 and ECSIT |
peroxiredoxin 2 |
ECSIT signaling integrator |
- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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- MyD88:MAL(TIRAP) cascade initiated on plasma membrane
- Complex I biogenesis
- TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
- MyD88 cascade initiated on plasma membrane
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- 3-Sulfinoalanine
- N-Carbamoyl-Alanine
- Copper
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PRDX2 and NLGN3 |
peroxiredoxin 2 |
neuroligin 3 |
- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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- Neurexins and neuroligins
- Neurexins and neuroligins
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- 3-Sulfinoalanine
- N-Carbamoyl-Alanine
- Copper
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PRDX2 and YWHAZ |
peroxiredoxin 2 |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
- Detoxification of Reactive Oxygen Species
- TP53 Regulates Metabolic Genes
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
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- 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
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- 3-Sulfinoalanine
- N-Carbamoyl-Alanine
- Copper
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UBA1 and TTC19 |
ubiquitin like modifier activating enzyme 1 |
tetratricopeptide repeat domain 19 |
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Antigen processing: Ubiquitination & Proteasome degradation
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- Hexatantalum Dodecabromide
- Quercetin
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- Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
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UBE3A and NDUFA13 |
ubiquitin protein ligase E3A |
NADH:ubiquinone oxidoreductase subunit A13 |
- Antigen processing: Ubiquitination & Proteasome degradation
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- Respiratory electron transport
- Complex I biogenesis
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- Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS); Prader-Willi syndrome (PWS)
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