abnormal glomerular filtration barrier function Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011856
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3 gene mutations causing the abnormal glomerular filtration barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
GRM1 glutamate receptor, metabotropic 1
LAMB2 laminin, beta 2 (laminin S)