NEDD4 and SFTPC |
NEDD4 E3 ubiquitin protein ligase |
surfactant protein C |
- ISG15 antiviral mechanism
- Downregulation of ERBB4 signaling
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Antigen processing: Ubiquitination & Proteasome degradation
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- 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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NOTCH1 and TLE3 |
notch receptor 1 |
TLE family member 3, transcriptional corepressor |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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- Formation of the beta-catenin:TCF transactivating complex
- Deactivation of the beta-catenin transactivating complex
- Repression of WNT target genes
- Repression of WNT target genes
- Estrogen-dependent gene expression
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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NOTCH1 and POFUT1 |
notch receptor 1 |
protein O-fucosyltransferase 1 |
- Pre-NOTCH Processing in the Endoplasmic Reticulum
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Processing in Golgi
- Pre-NOTCH Processing in Golgi
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
- Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- Defective LFNG causes SCDO3
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
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- Pre-NOTCH Processing in the Endoplasmic Reticulum
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- Bicuspid aortic valve
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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PCM1 and CCHCR1 |
pericentriolar material 1 |
coiled-coil alpha-helical rod protein 1 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
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PHF1 and ATXN7L1 |
PHD finger protein 1 |
ataxin 7 like 1 |
- PRC2 methylates histones and DNA
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PPARD and HDAC4 |
peroxisome proliferator activated receptor delta |
histone deacetylase 4 |
- Carnitine metabolism
- Regulation of pyruvate dehydrogenase (PDH) complex
- Nuclear Receptor transcription pathway
- Signaling by Retinoic Acid
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- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- Notch-HLH transcription pathway
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- RUNX2 regulates chondrocyte maturation
- RUNX3 regulates p14-ARF
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- Alpha-Linolenic Acid
- Icosapent
- Troglitazone
- Valproic Acid
- Treprostinil
- Rosiglitazone
- Sulindac
- Fenofibrate
- Pioglitazone
- Bezafibrate
- Phthalic Acid
- Heptyl-Beta-D-Glucopyranoside
- Oleic Acid
- (11E)-OCTADEC-11-ENOIC ACID
- Elafibranor
- KD3010
- GW-501516
- (2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acid
- 2-({[3-(3,4-dihydroisoquinolin-2(1H)-ylsulfonyl)phenyl]carbonyl}amino)benzoic acid
- Indeglitazar
- {4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acid
- Clinofibrate
- Glycerin
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- Zinc
- Belinostat
- Romidepsin
- Panobinostat
- N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide
- 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL
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- Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
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PPARD and HDAC7 |
peroxisome proliferator activated receptor delta |
histone deacetylase 7 |
- Carnitine metabolism
- Regulation of pyruvate dehydrogenase (PDH) complex
- Nuclear Receptor transcription pathway
- Signaling by Retinoic Acid
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- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- SUMOylation of DNA damage response and repair proteins
- Notch-HLH transcription pathway
- Regulation of PTEN gene transcription
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- Alpha-Linolenic Acid
- Icosapent
- Troglitazone
- Valproic Acid
- Treprostinil
- Rosiglitazone
- Sulindac
- Fenofibrate
- Pioglitazone
- Bezafibrate
- Phthalic Acid
- Heptyl-Beta-D-Glucopyranoside
- Oleic Acid
- (11E)-OCTADEC-11-ENOIC ACID
- Elafibranor
- KD3010
- GW-501516
- (2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acid
- 2-({[3-(3,4-dihydroisoquinolin-2(1H)-ylsulfonyl)phenyl]carbonyl}amino)benzoic acid
- Indeglitazar
- {4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acid
- Clinofibrate
- Glycerin
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- 7-[4-(Dimethylamino)Phenyl]-N-Hydroxy-4,6-Dimethyl-7-Oxo-2,4-Heptadienamide
- Belinostat
- Panobinostat
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PPARD and NR0B2 |
peroxisome proliferator activated receptor delta |
nuclear receptor subfamily 0 group B member 2 |
- Carnitine metabolism
- Regulation of pyruvate dehydrogenase (PDH) complex
- Nuclear Receptor transcription pathway
- Signaling by Retinoic Acid
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- Nuclear Receptor transcription pathway
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- Alpha-Linolenic Acid
- Icosapent
- Troglitazone
- Valproic Acid
- Treprostinil
- Rosiglitazone
- Sulindac
- Fenofibrate
- Pioglitazone
- Bezafibrate
- Phthalic Acid
- Heptyl-Beta-D-Glucopyranoside
- Oleic Acid
- (11E)-OCTADEC-11-ENOIC ACID
- Elafibranor
- KD3010
- GW-501516
- (2S)-2-{3-[({[2-fluoro-4-(trifluoromethyl)phenyl]carbonyl}amino)methyl]-4-methoxybenzyl}butanoic acid
- 2-({[3-(3,4-dihydroisoquinolin-2(1H)-ylsulfonyl)phenyl]carbonyl}amino)benzoic acid
- Indeglitazar
- {4-[3-(4-acetyl-3-hydroxy-2-propylphenoxy)propoxy]phenoxy}acetic acid
- Clinofibrate
- Glycerin
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PPP4C and PPP4R4 |
protein phosphatase 4 catalytic subunit |
protein phosphatase 4 regulatory subunit 4 |
- Processing of DNA double-strand break ends
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PZP and TGFB2 |
PZP alpha-2-macroglobulin like |
transforming growth factor beta 2 |
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- Platelet degranulation
- Molecules associated with elastic fibres
- ECM proteoglycans
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- Graft-versus-host disease
- Allograft rejection
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RARB and ARID1A |
retinoic acid receptor beta |
AT-rich interaction domain 1A |
- Nuclear Receptor transcription pathway
- Signaling by Retinoic Acid
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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- RMTs methylate histone arginines
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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- Adapalene
- Acitretin
- Alitretinoin
- Tretinoin
- Tazarotene
- Etretinate
- Arotinoid acid
- Tamibarotene
- LGD-1550
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- Non-small cell lung cancer
- Small cell lung cancer
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ROBO1 and ROBO2 |
roundabout guidance receptor 1 |
roundabout guidance receptor 2 |
- Netrin-1 signaling
- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Activation of RAC1
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Inactivation of CDC42 and RAC1
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- SLIT2:ROBO1 increases RHOA activity
- Regulation of cortical dendrite branching
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
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- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Regulation of cortical dendrite branching
- Regulation of expression of SLITs and ROBOs
- ROBO receptors bind AKAP5
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ROBO1 and SLIT2 |
roundabout guidance receptor 1 |
slit guidance ligand 2 |
- Netrin-1 signaling
- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Activation of RAC1
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Inactivation of CDC42 and RAC1
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- SLIT2:ROBO1 increases RHOA activity
- Regulation of cortical dendrite branching
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
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- Netrin-1 signaling
- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Activation of RAC1
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Inactivation of CDC42 and RAC1
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- SLIT2:ROBO1 increases RHOA activity
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
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ROBO2 and SLIT2 |
roundabout guidance receptor 2 |
slit guidance ligand 2 |
- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Regulation of cortical dendrite branching
- Regulation of expression of SLITs and ROBOs
- ROBO receptors bind AKAP5
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- Netrin-1 signaling
- Signaling by ROBO receptors
- Signaling by ROBO receptors
- Activation of RAC1
- Regulation of commissural axon pathfinding by SLIT and ROBO
- Inactivation of CDC42 and RAC1
- Role of ABL in ROBO-SLIT signaling
- Role of ABL in ROBO-SLIT signaling
- SLIT2:ROBO1 increases RHOA activity
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
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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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