| SFTPA1 and DMBT1 |
surfactant protein A1 |
deleted in malignant brain tumors 1 |
- Toll Like Receptor 4 (TLR4) Cascade
- Toll Like Receptor TLR1:TLR2 Cascade
- Signal regulatory protein family interactions
- Surfactant metabolism
- Regulation of TLR by endogenous ligand
- Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
- Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
|
|
- 2-(N-Morpholino)-Ethanesulfonic Acid
|
|
|
|
| HIPK2 and NKX2-5 |
homeodomain interacting protein kinase 2 |
NK2 homeobox 5 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- SUMOylation of transcription cofactors
- Physiological factors
- Regulation of TP53 Activity through Phosphorylation
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of MECP2 expression and activity
|
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- Physiological factors
|
|
|
|
- Atrial septal defect
- Tetralogy of Fallot
- Congenital nongoitrous hypothyroidism (CHNG)
|
| ROBO2 and BNIP3L |
roundabout guidance receptor 2 |
BCL2 interacting protein 3 like |
- 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
|
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
|
|
|
|
|
| HEY2 and PLSCR1 |
hes related family bHLH transcription factor with YRPW motif 2 |
phospholipid scramblase 1 |
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- RUNX2 regulates osteoblast differentiation
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
|
|
|
|
|
|
| HEY1 and CREBZF |
hes related family bHLH transcription factor with YRPW motif 1 |
CREB/ATF bZIP transcription factor |
- NOTCH1 Intracellular Domain Regulates Transcription
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- RUNX2 regulates osteoblast differentiation
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
|
|
|
|
|
|
| LCN2 and LRP2 |
lipocalin 2 |
LDL receptor related protein 2 |
- Interleukin-4 and Interleukin-13 signaling
- Neutrophil degranulation
- Metal sequestration by antimicrobial proteins
- Iron uptake and transport
- Iron uptake and transport
|
- Vitamin D (calciferol) metabolism
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Retinoid metabolism and transport
|
- Methyl Nonanoate (Ester)
- 2,3-Dihydroxy-Benzoic Acid
- Carboxymycobactin S
- 2,3,-Dihydroxybenzoylserine
- Carboxymycobactin T
- Trencam-3,2-Hopo
|
- Urokinase
- Insulin Human
- Insulin Pork
- Gentamicin
|
|
- Donnai-Barrow syndrome; Faciooculoacousticorenal syndrome
|
| CLU and LRP2 |
clusterin |
LDL receptor related protein 2 |
- Platelet degranulation
- Terminal pathway of complement
- Antimicrobial peptides
- Regulation of Complement cascade
|
- Vitamin D (calciferol) metabolism
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Retinoid metabolism and transport
|
|
- Urokinase
- Insulin Human
- Insulin Pork
- Gentamicin
|
|
- Donnai-Barrow syndrome; Faciooculoacousticorenal syndrome
|
| SFTPC and CXCL9 |
surfactant protein C |
C-X-C motif chemokine ligand 9 |
- 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)
|
- Chemokine receptors bind chemokines
- G alpha (i) signalling events
|
|
|
- Pulmonary surfactant metabolism dysfunction (SMDP)
|
|
| 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)
|
- mRNA Splicing - Major Pathway
|
|
|
- Pulmonary surfactant metabolism dysfunction (SMDP)
|
- 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
|
| BMP4 and HTRA1 |
bone morphogenetic protein 4 |
HtrA serine peptidase 1 |
- Molecules associated with elastic fibres
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
|
- Degradation of the extracellular matrix
|
|
|
- Anophthalmia and microphthalmia (A/M)
|
- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
|