abnormal kidney epithelial cell primary cilium physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation (Mammalian Phenotype Ontology, MP_0011744)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011744
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1 gene mutations causing the abnormal kidney epithelial cell primary cilium physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
PKD1 polycystic kidney disease 1 (autosomal dominant)