abnormal cilium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole (Mammalian Phenotype Ontology, MP_0013202)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013202
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160 gene mutations causing the abnormal cilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY10 adenylate cyclase 10 (soluble)
ADGRG2 adhesion G protein-coupled receptor G2
AGFG1 ArfGAP with FG repeats 1
AHR aryl hydrocarbon receptor
AK7 adenylate kinase 7
AKAP4 A kinase (PRKA) anchor protein 4
ALMS1 Alstrom syndrome protein 1
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ATAT1 alpha tubulin acetyltransferase 1
ATMIN ATM interactor
ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide
B9D1 B9 protein domain 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BICC1 BicC family RNA binding protein 1
BRWD1 bromodomain and WD repeat domain containing 1
C2CD3 C2 calcium-dependent domain containing 3
CADM1 cell adhesion molecule 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CBY1 chibby homolog 1 (Drosophila)
CCDC40 coiled-coil domain containing 40
CDH23 cadherin-related 23
CDK16 cyclin-dependent kinase 16
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CLIP1 CAP-GLY domain containing linker protein 1
CLUAP1 clusterin associated protein 1
CNBD2 cyclic nucleotide binding domain containing 2
CNOT7 CCR4-NOT transcription complex, subunit 7
CRB3 crumbs family member 3
CSNK2A2 casein kinase 2, alpha prime polypeptide
CUL4A cullin 4A
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DLL1 delta-like 1 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DPY19L2 dpy-19-like 2 (C. elegans)
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EGR4 early growth response 4
ENO4 enolase family member 4
ESR1 estrogen receptor 1
FGF10 fibroblast growth factor 10
FHL5 four and a half LIM domains 5
FKBP4 FK506 binding protein 4, 59kDa
FOXI1 forkhead box I1
FOXJ1 forkhead box J1
FOXN1 forkhead box N1
FSHR follicle stimulating hormone receptor
GFY golgi-associated, olfactory signaling regulator
GLIS3 GLIS family zinc finger 3
GMCL1 germ cell-less, spermatogenesis associated 1
GNRHR gonadotropin-releasing hormone receptor
GOLGA3 golgin A3
GOPC golgi-associated PDZ and coiled-coil motif containing
GPX4 glutathione peroxidase 4
GRID2 glutamate receptor, ionotropic, delta 2
GRXCR1 glutaredoxin, cysteine rich 1
HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4
HOOK1 hook microtubule-tethering protein 1
HYDIN HYDIN, axonemal central pair apparatus protein
IDO1 indoleamine 2,3-dioxygenase 1
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IGF1R insulin-like growth factor 1 receptor
ING2 inhibitor of growth family, member 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
INVS inversin
KATNB1 katanin p80 (WD repeat containing) subunit B 1
KIAA0586 KIAA0586
KIF19 kinesin family member 19
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KRT19 keratin 19, type I
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
MBD4 methyl-CpG binding domain protein 4
MEIG1 meiosis/spermiogenesis associated 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNS1 meiosis-specific nuclear structural 1
MYO6 myosin VI
NEURL1 neuralized E3 ubiquitin protein ligase 1
NME5 NME/NM23 family member 5
NOTO notochord homeobox
NPC1 Niemann-Pick disease, type C1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NSUN7 NOP2/Sun domain family, member 7
NUP210L nucleoporin 210kDa-like
OAZ3 ornithine decarboxylase antizyme 3
OCA2 oculocutaneous albinism II
ODF1 outer dense fiber of sperm tails 1
ODF2 outer dense fiber of sperm tails 2
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDZD7 PDZ domain containing 7
PICK1 protein interacting with PRKCA 1
PIFO primary cilia formation
PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLA2G3 phospholipase A2, group III
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme
PRND prion protein 2 (dublet)
PRSS21 protease, serine, 21 (testisin)
PTK7 protein tyrosine kinase 7 (inactive)
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B)
QKI QKI, KH domain containing, RNA binding
RABL2A RAB, member of RAS oncogene family-like 2A
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RIMBP3 RIMS binding protein 3
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RXRB retinoid X receptor, beta
SDCCAG8 serologically defined colon cancer antigen 8
SEPP1 selenoprotein P, plasma, 1
SEPT12 septin 12
SEPT4 septin 4
SIRT1 sirtuin 1
SLC26A8 solute carrier family 26 (anion exchanger), member 8
SLIRP SRA stem-loop interacting RNA binding protein
SPACA1 sperm acrosome associated 1
SPAG16 sperm associated antigen 16
SPAG6 sperm associated antigen 6
SPEF2 sperm flagellar 2
SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa
TALDO1 transaldolase 1
TBX6 T-box 6
TCTE3 t-complex-associated-testis-expressed 3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TEKT2 tektin 2 (testicular)
TEKT3 tektin 3
TEKT4 tektin 4
THEG theg spermatid protein
TMEM67 transmembrane protein 67
TMF1 TATA element modulatory factor 1
TMPRSS3 transmembrane protease, serine 3
TNP1 transition protein 1 (during histone to protamine replacement)
TNP2 transition protein 2 (during histone to protamine replacement)
TPGS1 tubulin polyglutamylase complex subunit 1
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TTLL1 tubulin tyrosine ligase-like family member 1
TTLL5 tubulin tyrosine ligase-like family member 5
UBE2B ubiquitin-conjugating enzyme E2B
ULK4 unc-51 like kinase 4
USH1G Usher syndrome 1G (autosomal recessive)
VDAC3 voltage-dependent anion channel 3
WDPCP WD repeat containing planar cell polarity effector
WDR35 WD repeat domain 35
WWTR1 WW domain containing transcription regulator 1
ZFP42 ZFP42 zinc finger protein
ZIC3 Zic family member 3
ZPBP zona pellucida binding protein