Ciliopathies (WP4803)

Homo sapiens

The major structures of motile and non-motile cilia (top), the early steps of ciliogenesis (middle), and the links between ciliary trafficking and ciliopathies (bottom) from Reiter 2017.
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Authors

Ritchie Lee , Kristina Hanspers , and Alex Pico

Cited In

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Organism

Homo sapiens

Communities

Rare Diseases Skeletal Dysplasia

Annotations

Disease Ontology: ciliopathy

Pathway Ontology: disease pathway

Participants

Label Type Compact Identifier Comment
GLI2 GeneProduct ensembl:ENSG00000074047
ADCY6 GeneProduct ensembl:ENSG00000174233
ANKS3 GeneProduct ensembl:ENSG00000168096
DCDC2 GeneProduct ensembl:ENSG00000146038
EFHC1 GeneProduct ensembl:ENSG00000096093
C21orf2 GeneProduct ensembl:ENSG00000160226
C2orf71 GeneProduct ensembl:ENSG00000179270
CNGB1 GeneProduct ensembl:ENSG00000070729
CNGA1 GeneProduct ensembl:ENSG00000198515
CEP41 GeneProduct ensembl:ENSG00000106477
ANKS6 GeneProduct ensembl:ENSG00000165138
PKD1 GeneProduct ensembl:ENSG00000008710
PKD2 GeneProduct ensembl:ENSG00000118762
SMO GeneProduct ensembl:ENSG00000128602
PIK3R4 GeneProduct ensembl:ENSG00000196455
OCRL GeneProduct ensembl:ENSG00000122126
NEK1 GeneProduct ensembl:ENSG00000137601
LCA5 GeneProduct ensembl:ENSG00000135338
IQCB1 GeneProduct ensembl:ENSG00000173226
INPP5E GeneProduct ensembl:ENSG00000148384
ICK GeneProduct ensembl:ENSG00000112144
GPR161 GeneProduct ensembl:ENSG00000143147
FLCN GeneProduct ensembl:ENSG00000154803
USP9X GeneProduct ensembl:ENSG00000124486
SDCCAG8 GeneProduct ensembl:ENSG00000054282
RAB23 GeneProduct ensembl:ENSG00000112210
PKHD1 GeneProduct ensembl:ENSG00000170927
PKD1L1 GeneProduct ensembl:ENSG00000158683
CEP104 GeneProduct ensembl:ENSG00000116198
GLI3 GeneProduct ensembl:ENSG00000106571
NEK8 GeneProduct ensembl:ENSG00000160602
SUFU GeneProduct ensembl:ENSG00000107882
KIF7 GeneProduct ensembl:ENSG00000166813
CRX GeneProduct ensembl:ENSG00000105392
NPHP3 GeneProduct ensembl:ENSG00000113971
INVS GeneProduct ensembl:ENSG00000119509
EVC2 GeneProduct ensembl:ENSG00000173040
EVC GeneProduct ensembl:ENSG00000072840
ZIC2 GeneProduct ensembl:ENSG00000043355
ALMS1 GeneProduct ensembl:ENSG00000116127
AK7 GeneProduct ensembl:ENSG00000140057
XPNPEP3 GeneProduct ensembl:ENSG00000196236
TBC1D32 GeneProduct ensembl:ENSG00000146350
POMGNT1 GeneProduct ensembl:ENSG00000085998
PIK3R4 GeneProduct ensembl:ENSG00000196455
GLIS2 GeneProduct ensembl:ENSG00000126603
GALNT11 GeneProduct ensembl:ENSG00000178234
DDX59 GeneProduct ensembl:ENSG00000118197
ZNF423 GeneProduct ensembl:ENSG00000102935
TULP1 GeneProduct ensembl:ENSG00000112041
OFD1 GeneProduct ensembl:ENSG00000046651
KIAA0556 GeneProduct ensembl:ENSG00000047578
INTU GeneProduct ensembl:ENSG00000164066
FLCN GeneProduct ensembl:ENSG00000154803
PLK4 GeneProduct ensembl:ENSG00000142731
PIBF1 GeneProduct ensembl:ENSG00000083535
OCRL GeneProduct ensembl:ENSG00000122126
NME7 GeneProduct ensembl:ENSG00000143156
HYLS1 GeneProduct ensembl:ENSG00000198331
C21orf2 GeneProduct ensembl:ENSG00000160226
C2CD3 GeneProduct ensembl:ENSG00000168014
CEP104 GeneProduct ensembl:ENSG00000116198
CEP78 GeneProduct ensembl:ENSG00000148019
NEK2 GeneProduct ensembl:ENSG00000117650
KIZ GeneProduct ensembl:ENSG00000088970
FAM161A GeneProduct ensembl:ENSG00000170264
CSPP1 GeneProduct ensembl:ENSG00000104218
CEP120 GeneProduct ensembl:ENSG00000168944
CEP41 GeneProduct ensembl:ENSG00000106477
CEP19 GeneProduct ensembl:ENSG00000174007
CENPF GeneProduct ensembl:ENSG00000117724
ARL2BP GeneProduct ensembl:ENSG00000102931
CFAP52 GeneProduct ensembl:ENSG00000166596
NEK9 GeneProduct ensembl:ENSG00000119638
ATXN10 GeneProduct ensembl:ENSG00000130638
CC2D2A GeneProduct ensembl:ENSG00000048342
OFD1 GeneProduct ensembl:ENSG00000046651
WDPCP GeneProduct ensembl:ENSG00000143951
TTLL5 GeneProduct ensembl:ENSG00000119685
TOPORS GeneProduct ensembl:ENSG00000197579
CEP83 GeneProduct ensembl:ENSG00000173588
TUB GeneProduct ensembl:ENSG00000166402
TAPT1 GeneProduct ensembl:ENSG00000169762
RP2 GeneProduct ensembl:ENSG00000102218
KIAA0586 GeneProduct ensembl:ENSG00000100578
RAB28 GeneProduct ensembl:ENSG00000157869
POC1A GeneProduct ensembl:ENSG00000164087
POC1B GeneProduct ensembl:ENSG00000139323
CEP164 GeneProduct ensembl:ENSG00000110274
TTBK2 GeneProduct ensembl:ENSG00000128881
SCLT1 GeneProduct ensembl:ENSG00000151466
CEP290 GeneProduct ensembl:ENSG00000198707
CFAP53 GeneProduct ensembl:ENSG00000172361
CCDC28B GeneProduct ensembl:ENSG00000160050
KIAA0753 GeneProduct ensembl:ENSG00000198920
BBS4 GeneProduct ensembl:ENSG00000140463
TMEM237 GeneProduct ensembl:ENSG00000155755
TMEM231 GeneProduct ensembl:ENSG00000205084
TMEM216 GeneProduct ensembl:ENSG00000187049
TMEM138 GeneProduct ensembl:ENSG00000149483
TMEM107 GeneProduct ensembl:ENSG00000179029
TMEM67 GeneProduct ensembl:ENSG00000164953
TCTN2 GeneProduct ensembl:ENSG00000168778
TMEM17 GeneProduct ensembl:ENSG00000186889
TCTN1 GeneProduct ensembl:ENSG00000204852
SPATA7 GeneProduct ensembl:ENSG00000042317
SDCCAG8 GeneProduct ensembl:ENSG00000054282
RPGRIP1L GeneProduct ensembl:ENSG00000103494
IQCB1 GeneProduct ensembl:ENSG00000173226
RPGRIP1 GeneProduct ensembl:ENSG00000092200
RP1L1 GeneProduct ensembl:ENSG00000183638
C5orf42 GeneProduct ensembl:ENSG00000197603
TCTN3 GeneProduct ensembl:ENSG00000119977
RP1 GeneProduct ensembl:ENSG00000104237
NPHP4 GeneProduct ensembl:ENSG00000131697
CEP290 GeneProduct ensembl:ENSG00000198707
NPHP1 GeneProduct ensembl:ENSG00000144061
MKS1 GeneProduct ensembl:ENSG00000011143
CC2D2A GeneProduct ensembl:ENSG00000048342
LCA5 GeneProduct ensembl:ENSG00000135338
B9D2 GeneProduct ensembl:ENSG00000123810
B9D1 GeneProduct ensembl:ENSG00000108641
AHI1 GeneProduct ensembl:ENSG00000135541
RSPH1 GeneProduct ensembl:ENSG00000160188
GAS8 GeneProduct ensembl:ENSG00000141013
LRRC6 GeneProduct ensembl:ENSG00000129295
NME9 GeneProduct ensembl:ENSG00000181322
MCIDAS GeneProduct ensembl:ENSG00000234602
DNAL1 GeneProduct ensembl:ENSG00000119661
DNAAF4 GeneProduct ensembl:ENSG00000256061
CCDC151 GeneProduct ensembl:ENSG00000198003
DNAAF5 GeneProduct ensembl:ENSG00000164818
DNAI2 GeneProduct ensembl:ENSG00000171595
CCNO GeneProduct ensembl:ENSG00000152669
DNAH6 GeneProduct ensembl:ENSG00000115423
DNAJB13 GeneProduct ensembl:ENSG00000187726
PIH1D3 GeneProduct ensembl:ENSG00000080572
CCDC40 GeneProduct ensembl:ENSG00000141519
HYDIN GeneProduct ensembl:ENSG00000157423
CCDC103 GeneProduct ensembl:ENSG00000167131
DNAH11 GeneProduct ensembl:ENSG00000105877
ARMC4 GeneProduct ensembl:ENSG00000169126
ZMYND10 GeneProduct ensembl:ENSG00000004838
TTC25 GeneProduct ensembl:ENSG00000204815
DRC1 GeneProduct ensembl:ENSG00000157856
SPAG1 GeneProduct ensembl:ENSG00000104450
RSPH3 GeneProduct ensembl:ENSG00000130363
CCDC114 GeneProduct ensembl:ENSG00000105479
CCDC39 GeneProduct ensembl:ENSG00000284862
CCDC65 GeneProduct ensembl:ENSG00000139537
DNAAF5 GeneProduct ensembl:ENSG00000164818
RSPH4A GeneProduct ensembl:ENSG00000111834
RSPH9 GeneProduct ensembl:ENSG00000172426
DNAAF1 GeneProduct ensembl:ENSG00000154099
C21orf59 GeneProduct ensembl:ENSG00000159079
DNAI1 GeneProduct ensembl:ENSG00000122735
DNAAF2 GeneProduct ensembl:ENSG00000165506
DNAAF3 GeneProduct ensembl:ENSG00000167646
UNC119 GeneProduct ensembl:ENSG00000109103
IFT172 GeneProduct ensembl:ENSG00000138002
ARL3 GeneProduct ensembl:ENSG00000138175
BBS2 GeneProduct ensembl:ENSG00000125124
TTC21B GeneProduct ensembl:ENSG00000123607
CCNQ GeneProduct ensembl:ENSG00000262919
WDR19 GeneProduct ensembl:ENSG00000157796
IFT27 GeneProduct ensembl:ENSG00000100360
BBS10 GeneProduct ensembl:ENSG00000179941
CEP290 GeneProduct ensembl:ENSG00000198707
MKS1 GeneProduct ensembl:ENSG00000011143
BBS12 GeneProduct ensembl:ENSG00000181004
MAK GeneProduct ensembl:ENSG00000111837
SDCCAG8 GeneProduct ensembl:ENSG00000054282
ARL6 GeneProduct ensembl:ENSG00000113966
BBS7 GeneProduct ensembl:ENSG00000138686
BBIP1 GeneProduct ensembl:ENSG00000214413
IFT43 GeneProduct ensembl:ENSG00000119650
LZTFL1 GeneProduct ensembl:ENSG00000163818
IFT122 GeneProduct ensembl:ENSG00000163913
MKKS GeneProduct ensembl:ENSG00000125863
WDR35 GeneProduct ensembl:ENSG00000118965
BBS4 GeneProduct ensembl:ENSG00000140463
ICK GeneProduct ensembl:ENSG00000112144
C8orf37 GeneProduct ensembl:ENSG00000156172
TRAF3IP1 GeneProduct ensembl:ENSG00000204104
IFT57 GeneProduct ensembl:ENSG00000114446
BBS1 GeneProduct ensembl:ENSG00000174483
RP2 GeneProduct ensembl:ENSG00000102218
BBS5 GeneProduct ensembl:ENSG00000163093
IFT81 GeneProduct ensembl:ENSG00000122970
TTC8 GeneProduct ensembl:ENSG00000165533
IFT80 GeneProduct ensembl:ENSG00000068885
BBS9 GeneProduct ensembl:ENSG00000122507
WDPCP GeneProduct ensembl:ENSG00000143951
TRIM32 GeneProduct ensembl:ENSG00000119401
CLUAP1 GeneProduct ensembl:ENSG00000103351
PDE6D GeneProduct ensembl:ENSG00000156973
IFT52 GeneProduct ensembl:ENSG00000101052
ARL13B GeneProduct ensembl:ENSG00000169379
IFT140 GeneProduct ensembl:ENSG00000187535
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
WDR60 GeneProduct ensembl:ENSG00000126870
WDR34 GeneProduct ensembl:ENSG00000119333
DYNC2H1 GeneProduct ensembl:ENSG00000187240
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
DYNC2LI1 GeneProduct ensembl:ENSG00000138036
WDR60 GeneProduct ensembl:ENSG00000126870
WDR34 GeneProduct ensembl:ENSG00000119333
DYNC2H1 GeneProduct ensembl:ENSG00000187240
TCTEX1D2 GeneProduct ensembl:ENSG00000213123
TTC21B GeneProduct ensembl:ENSG00000123607
WDR19 GeneProduct ensembl:ENSG00000157796
IFT43 GeneProduct ensembl:ENSG00000119650
IFT122 GeneProduct ensembl:ENSG00000163913
WDR35 GeneProduct ensembl:ENSG00000118965
IFT140 GeneProduct ensembl:ENSG00000187535
BBS2 GeneProduct ensembl:ENSG00000125124
BBS10 GeneProduct ensembl:ENSG00000179941
CEP290 GeneProduct ensembl:ENSG00000198707
MKS1 GeneProduct ensembl:ENSG00000011143
BBS12 GeneProduct ensembl:ENSG00000181004
SDCCAG8 GeneProduct ensembl:ENSG00000054282
ARL6 GeneProduct ensembl:ENSG00000113966
BBS7 GeneProduct ensembl:ENSG00000138686
BBIP1 GeneProduct ensembl:ENSG00000214413
LZTFL1 GeneProduct ensembl:ENSG00000163818
MKKS GeneProduct ensembl:ENSG00000125863
BBS4 GeneProduct ensembl:ENSG00000140463
C8orf37 GeneProduct ensembl:ENSG00000156172
BBS1 GeneProduct ensembl:ENSG00000174483
BBS5 GeneProduct ensembl:ENSG00000163093
TTC8 GeneProduct ensembl:ENSG00000165533
BBS9 GeneProduct ensembl:ENSG00000122507
WDPCP GeneProduct ensembl:ENSG00000143951
TRIM32 GeneProduct ensembl:ENSG00000119401
IFT172 GeneProduct ensembl:ENSG00000138002
IFT27 GeneProduct ensembl:ENSG00000100360
TRAF3IP1 GeneProduct ensembl:ENSG00000204104
IFT57 GeneProduct ensembl:ENSG00000114446
IFT81 GeneProduct ensembl:ENSG00000122970
IFT80 GeneProduct ensembl:ENSG00000068885
CLUAP1 GeneProduct ensembl:ENSG00000103351
IFT52 GeneProduct ensembl:ENSG00000101052
UNC119 GeneProduct ensembl:ENSG00000109103
ARL3 GeneProduct ensembl:ENSG00000138175
RP2 GeneProduct ensembl:ENSG00000102218
PDE6D GeneProduct ensembl:ENSG00000156973
ARL13B GeneProduct ensembl:ENSG00000169379
CCNQ GeneProduct ensembl:ENSG00000262919
MAK GeneProduct ensembl:ENSG00000111837
ICK GeneProduct ensembl:ENSG00000112144
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References

  1. Genes and molecular pathways underpinning ciliopathies. Reiter JF, Leroux MR. Nat Rev Mol Cell Biol. 2017 Sep;18(9):533–47. PubMed Europe PMC Scholia