abnormal nonmotile primary cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules (Mammalian Phenotype Ontology, MP_0013205)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013205
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Genes

29 gene mutations causing the abnormal nonmotile 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
CDH23 cadherin-related 23
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
FGF10 fibroblast growth factor 10
GFY golgi-associated, olfactory signaling regulator
GLIS3 GLIS family zinc finger 3
GRXCR1 glutaredoxin, cysteine rich 1
IFT88 intraflagellar transport 88
IGF1R insulin-like growth factor 1 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYO6 myosin VI
NPHP3 nephronophthisis 3 (adolescent)
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PTK7 protein tyrosine kinase 7 (inactive)
SDCCAG8 serologically defined colon cancer antigen 8
TMEM67 transmembrane protein 67
TMPRSS3 transmembrane protease, serine 3
USH1G Usher syndrome 1G (autosomal recessive)
WDPCP WD repeat containing planar cell polarity effector
WWTR1 WW domain containing transcription regulator 1