abnormal primary cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural 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_0013203)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013203
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Genes

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

Symbol Name
ALMS1 Alstrom syndrome protein 1
ATMIN ATM interactor
B9D1 B9 protein domain 1
BBS4 Bardet-Biedl syndrome 4
BICC1 BicC family RNA binding protein 1
C2CD3 C2 calcium-dependent domain containing 3
CCDC40 coiled-coil domain containing 40
CDH23 cadherin-related 23
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLUAP1 clusterin associated protein 1
DLL1 delta-like 1 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
FGF10 fibroblast growth factor 10
FOXJ1 forkhead box J1
GFY golgi-associated, olfactory signaling regulator
GLIS3 GLIS family zinc finger 3
GRXCR1 glutaredoxin, cysteine rich 1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IGF1R insulin-like growth factor 1 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
INVS inversin
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
MBD4 methyl-CpG binding domain protein 4
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYO6 myosin VI
NOTO notochord homeobox
NPHP3 nephronophthisis 3 (adolescent)
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PIFO primary cilia formation
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)
RFX3 regulatory factor X, 3 (influences HLA class II expression)
SDCCAG8 serologically defined colon cancer antigen 8
TBX6 T-box 6
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TMEM67 transmembrane protein 67
TMPRSS3 transmembrane protease, serine 3
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
USH1G Usher syndrome 1G (autosomal recessive)
WDPCP WD repeat containing planar cell polarity effector
WDR35 WD repeat domain 35
WWTR1 WW domain containing transcription regulator 1
ZIC3 Zic family member 3