absent podocyte slit diaphragm Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream (Mammalian Phenotype Ontology, MP_0008061)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008061
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Genes

7 gene mutations causing the absent podocyte slit diaphragm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CD151 CD151 molecule (Raph blood group)
FOXC2 forkhead box C2
HPRT1 hypoxanthine phosphoribosyltransferase 1
LMX1B LIM homeobox transcription factor 1, beta
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PODXL podocalyxin-like