abnormal renal tubule epithelial cell primary cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor (Mammalian Phenotype Ontology, MP_0011066)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011066
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Genes

11 gene mutations causing the abnormal renal tubule epithelial cell primary cilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALMS1 Alstrom syndrome protein 1
B9D1 B9 protein domain 1
BBS4 Bardet-Biedl syndrome 4
GLIS3 GLIS family zinc finger 3
IFT88 intraflagellar transport 88
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
MKS1 Meckel syndrome, type 1
NPHP3 nephronophthisis 3 (adolescent)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
TMEM67 transmembrane protein 67
WWTR1 WW domain containing transcription regulator 1