Biological Process
Axial mesodermal cell fate specificationIEA:Ensembl
BMP signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Brain developmentIEA:Ensembl
Cell migration involved in gastrulationIEA:Ensembl
Digestive tract morphogenesisIEA:Ensembl
Embryonic cranial skeleton morphogenesisIEA:Ensembl
Embryonic pattern specificationIEA:Ensembl
Embryonic placenta developmentIEA:Ensembl
Embryonic process involved in female pregnancyIEA:Ensembl
Endodermal cell differentiationManual Assertion Based On ExperimentIMP:BHF-UCL
Epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specificationIEA:Ensembl
Floor plate morphogenesisIEA:Ensembl
Formation of anatomical boundaryIEA:Ensembl
Heart loopingIEA:Ensembl
Inhibition of neuroepithelial cell differentiationIEA:Ensembl
Left lung morphogenesisIEA:Ensembl
Liver developmentIEA:Ensembl
Maternal placenta developmentIEA:Ensembl
Maternal process involved in parturitionIEA:Ensembl
Mesendoderm developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of androgen receptor signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of cell developmentIEA:Ensembl
Negative regulation of chorionic trophoblast cell proliferationManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Negative regulation of trophoblast cell migrationManual Assertion Based On ExperimentIDA:BHF-UCL
Neural fold formationIEA:Ensembl
Nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryIEA:Ensembl
Placenta developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Polarity specification of proximal/distal axisIEA:Ensembl
Positive regulation of activin receptor signaling pathwayManual Assertion Based On ExperimentIGI:BHF-UCL
Positive regulation of angiogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cell-cell adhesionManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic processManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of epithelial cell proliferationManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of ERK1 and ERK2 cascadeManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryISS:BHF-UCL
Positive regulation of pathway-restricted SMAD protein phosphorylationManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of SMAD protein signal transductionManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Positive regulation of vascular endothelial growth factor productionManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of gastrulationIEA:Ensembl
Regulation of stem cell population maintenanceManual Assertion Based On ExperimentTAS:BHF-UCL
SMAD protein signal transductionManual Assertion Based On ExperimentIBA:GO_Central
Stem cell population maintenanceIEA:Ensembl
Transforming growth factor beta receptor signaling pathway involved in primitive streak formationIEA:Ensembl
Trophectodermal cellular morphogenesisIEA:Ensembl
Vasculature developmentIEA:Ensembl
Involvement in disease
Heterotaxy, visceral, 5, autosomal (HTX5):
An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.