|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||anomaly in the function of the highly specialized blood filtration interface that displays a high conductance to small and midsized solutes in plasma but retains relative impermeability to macromolecules; its integrity is maintained by physicochemical and signalling interplay among its three core constituents -- the fenestrated endothelium of the glomerular capillaries, the glomerular basement membrane, and the filtration slits of the visceral epithelial cell (podocyte); the barrier permits the passage of water, ions, and small molecules from the bloodstream into the Bowman's space and prevents the loss of large and/or negatively charged proteins (e.g. serum albumin) from blood into urine (Mammalian Phenotype Ontology, MP_0011856)|
|Downloads & Tools|
3 gene mutations causing the abnormal glomerular filtration barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.