abnormal primary cilium physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors (Mammalian Phenotype Ontology, MP_0013210)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013210
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Genes

9 gene mutations causing the abnormal primary cilium physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BICC1 BicC family RNA binding protein 1
DNAH11 dynein, axonemal, heavy chain 11
FOXJ1 forkhead box J1
INVS inversin
KIF3A kinesin family member 3A
MKS1 Meckel syndrome, type 1
NOTO notochord homeobox
PIFO primary cilia formation
PKD1 polycystic kidney disease 1 (autosomal dominant)