Ciliopathies (Homo sapiens)

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Description

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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Quality Tags

Ontology Terms

 

Bibliography

  1. Reiter JF, Leroux MR; ''Genes and molecular pathways underpinning ciliopathies.''; Nat Rev Mol Cell Biol, 2017 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
141106view12:24, 3 November 2025EweitzClear cached dimensions
141105view12:23, 3 November 2025EweitzEconomize layout
128947view12:20, 24 February 2024EweitzSoften disease colors
128942view01:26, 24 February 2024EweitzFix typo, add conventional space
128941view01:24, 24 February 2024EweitzFix typo, remove duplicate disease node
128940view01:22, 24 February 2024EweitzOntology Term : 'infertility' added !
128939view01:22, 24 February 2024EweitzOntology Term : 'male infertility' added !
128938view01:22, 24 February 2024EweitzOntology Term : 'lethal congenital contracture syndrome' added !
128937view01:21, 24 February 2024EweitzOntology Term : 'Birt-Hogg-Dube syndrome' added !
128936view01:21, 24 February 2024EweitzOntology Term : 'sensorineural hearing loss' added !
128935view01:19, 24 February 2024EweitzOntology Term : 'orofaciodigital syndrome' added !
128934view01:19, 24 February 2024EweitzOntology Term : 'asphyxiating thoracic dystrophy' added !
128933view01:19, 24 February 2024EweitzOntology Term : 'Greig cephalopolysyndactyly syndrome' added !
128932view01:18, 24 February 2024EweitzOntology Term : 'Ellis-Van Creveld syndrome' added !
128931view01:17, 24 February 2024EweitzOntology Term : 'congenital heart disease' added !
128930view01:16, 24 February 2024EweitzOntology Term : 'polycystic kidney disease' added !
128929view01:16, 24 February 2024EweitzOntology Term : 'nephronophthisis' added !
128928view01:16, 24 February 2024EweitzOntology Term : 'retinitis pigmentosa' added !
128927view01:15, 24 February 2024EweitzOntology Term : 'cone-rod dystrophy' added !
128926view01:15, 24 February 2024EweitzOntology Term : 'Leber congenital amaurosis' added !
128925view01:15, 24 February 2024EweitzOntology Term : 'medulloblastoma' added !
128924view01:14, 24 February 2024EweitzOntology Term : 'juvenile myoclonic epilepsy' added !
128923view01:14, 24 February 2024EweitzOntology Term : 'holoprosencephaly' added !
128922view01:14, 24 February 2024EweitzOntology Term : 'Senior-Loken syndrome' added !
128921view01:13, 24 February 2024EweitzOntology Term : 'Pallister-Hall syndrome' added !
128920view01:13, 24 February 2024EweitzOntology Term : 'Meckel syndrome' added !
128919view01:12, 24 February 2024EweitzOntology Term : 'oculocerebrorenal syndrome' added !
128918view01:11, 24 February 2024EweitzOntology Term : 'Joubert syndrome' added !
128917view01:11, 24 February 2024EweitzOntology Term : 'hydrolethalus syndrome' added !
128916view01:11, 24 February 2024EweitzOntology Term : 'Carpenter syndrome' added !
128915view01:10, 24 February 2024EweitzOntology Term : 'Bardet-Biedl syndrome' added !
128914view01:10, 24 February 2024EweitzOntology Term : 'primary ciliary dyskinesia' added !
128230view13:36, 29 January 2024EweitzSoften disease color
110008view18:16, 12 April 2020AlexanderPicoOntology Term : 'disease pathway' added !
110007view18:05, 12 April 2020AlexanderPicoModified description
110006view17:59, 12 April 2020AlexanderPicochanged interactions into graphical lines; removed stray gene produce nodes
109918view17:03, 6 April 2020KhanspersOntology Term : 'ciliopathy' added !
109093view04:45, 17 February 2020RleeDownsized diagram 3
109089view02:16, 17 February 2020RleeUpdated graphics: added disease gropu boxes and added shapes to 3rd diagram
109088view00:48, 17 February 2020RleeImproved graphic: added colour to GeneProduct nodes
109028view04:55, 14 February 2020RleeMade semi-circles (arcs) transparent, graphical improvement.
109027view04:53, 14 February 2020RleeMade semi-circles (arcs) transparent.
109026view04:51, 14 February 2020RleeUpdated diagrams.
109025view04:43, 14 February 2020RleeUpdated diagrams.
109020view03:23, 14 February 2020RleeUpdated diagrams.
109019view02:59, 14 February 2020RleeUpdated diagrams.
109016view02:26, 14 February 2020RleeUpdated diagrams.
109015view02:05, 14 February 2020RleeModified description
109014view00:09, 14 February 2020RleeModified description
109013view00:01, 14 February 2020RleeModified description

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ADCY6GeneProductENSG00000174233 (Ensembl)
AHI1GeneProductENSG00000135541 (Ensembl)
AK7GeneProductENSG00000140057 (Ensembl)
ALMS1GeneProductENSG00000116127 (Ensembl)
ANKS3GeneProductENSG00000168096 (Ensembl)
ANKS6GeneProductENSG00000165138 (Ensembl)
ARL13BGeneProductENSG00000169379 (Ensembl)
ARL2BPGeneProductENSG00000102931 (Ensembl)
ARL3GeneProductENSG00000138175 (Ensembl)
ARL6GeneProductENSG00000113966 (Ensembl)
ARMC4GeneProductENSG00000169126 (Ensembl)
ATXN10GeneProductENSG00000130638 (Ensembl)
B9D1GeneProductENSG00000108641 (Ensembl)
B9D2GeneProductENSG00000123810 (Ensembl)
BBIP1GeneProductENSG00000214413 (Ensembl)
BBS10GeneProductENSG00000179941 (Ensembl)
BBS12GeneProductENSG00000181004 (Ensembl)
BBS1GeneProductENSG00000174483 (Ensembl)
BBS2GeneProductENSG00000125124 (Ensembl)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS5GeneProductENSG00000163093 (Ensembl)
BBS7GeneProductENSG00000138686 (Ensembl)
BBS9GeneProductENSG00000122507 (Ensembl)
C21orf2GeneProductENSG00000160226 (Ensembl)
C21orf59GeneProductENSG00000159079 (Ensembl)
C2CD3GeneProductENSG00000168014 (Ensembl)
C2orf71GeneProductENSG00000179270 (Ensembl)
C5orf42GeneProductENSG00000197603 (Ensembl)
C8orf37GeneProductENSG00000156172 (Ensembl)
CC2D2AGeneProductENSG00000048342 (Ensembl)
CCDC103GeneProductENSG00000167131 (Ensembl)
CCDC114GeneProductENSG00000105479 (Ensembl)
CCDC151GeneProductENSG00000198003 (Ensembl)
CCDC28BGeneProductENSG00000160050 (Ensembl)
CCDC39GeneProductENSG00000284862 (Ensembl)
CCDC40GeneProductENSG00000141519 (Ensembl)
CCDC65GeneProductENSG00000139537 (Ensembl)
CCNOGeneProductENSG00000152669 (Ensembl)
CCNQGeneProductENSG00000262919 (Ensembl)
CENPFGeneProductENSG00000117724 (Ensembl)
CEP104GeneProductENSG00000116198 (Ensembl)
CEP120GeneProductENSG00000168944 (Ensembl)
CEP164GeneProductENSG00000110274 (Ensembl)
CEP19GeneProductENSG00000174007 (Ensembl)
CEP290GeneProductENSG00000198707 (Ensembl)
CEP41GeneProductENSG00000106477 (Ensembl)
CEP78GeneProductENSG00000148019 (Ensembl)
CEP83GeneProductENSG00000173588 (Ensembl)
CFAP52GeneProductENSG00000166596 (Ensembl)
CFAP53GeneProductENSG00000172361 (Ensembl)
CLUAP1GeneProductENSG00000103351 (Ensembl)
CNGA1GeneProductENSG00000198515 (Ensembl)
CNGB1GeneProductENSG00000070729 (Ensembl)
CRXGeneProductENSG00000105392 (Ensembl)
CSPP1GeneProductENSG00000104218 (Ensembl)
DCDC2GeneProductENSG00000146038 (Ensembl)
DDX59GeneProductENSG00000118197 (Ensembl)
DNAAF1GeneProductENSG00000154099 (Ensembl)
DNAAF2GeneProductENSG00000165506 (Ensembl)
DNAAF3GeneProductENSG00000167646 (Ensembl)
DNAAF4GeneProductENSG00000256061 (Ensembl)
DNAAF5GeneProductENSG00000164818 (Ensembl)
DNAH11GeneProductENSG00000105877 (Ensembl)
DNAH6GeneProductENSG00000115423 (Ensembl)
DNAI1GeneProductENSG00000122735 (Ensembl)
DNAI2GeneProductENSG00000171595 (Ensembl)
DNAJB13GeneProductENSG00000187726 (Ensembl)
DNAL1GeneProductENSG00000119661 (Ensembl)
DRC1GeneProductENSG00000157856 (Ensembl)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
EFHC1GeneProductENSG00000096093 (Ensembl)
EVC2GeneProductENSG00000173040 (Ensembl)
EVCGeneProductENSG00000072840 (Ensembl)
FAM161AGeneProductENSG00000170264 (Ensembl)
FLCNGeneProductENSG00000154803 (Ensembl)
GALNT11GeneProductENSG00000178234 (Ensembl)
GAS8GeneProductENSG00000141013 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GLIS2GeneProductENSG00000126603 (Ensembl)
GPR161GeneProductENSG00000143147 (Ensembl)
HYDINGeneProductENSG00000157423 (Ensembl)
HYLS1GeneProductENSG00000198331 (Ensembl)
ICKGeneProductENSG00000112144 (Ensembl)
IFT122GeneProductENSG00000163913 (Ensembl)
IFT140GeneProductENSG00000187535 (Ensembl)
IFT172GeneProductENSG00000138002 (Ensembl)
IFT27GeneProductENSG00000100360 (Ensembl)
IFT43GeneProductENSG00000119650 (Ensembl)
IFT52GeneProductENSG00000101052 (Ensembl)
IFT57GeneProductENSG00000114446 (Ensembl)
IFT80GeneProductENSG00000068885 (Ensembl)
IFT81GeneProductENSG00000122970 (Ensembl)
INPP5EGeneProductENSG00000148384 (Ensembl)
INTUGeneProductENSG00000164066 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
IQCB1GeneProductENSG00000173226 (Ensembl)
KIAA0556GeneProductENSG00000047578 (Ensembl)
KIAA0586GeneProductENSG00000100578 (Ensembl)
KIAA0753GeneProductENSG00000198920 (Ensembl)
KIF7GeneProductENSG00000166813 (Ensembl)
KIZGeneProductENSG00000088970 (Ensembl)
LCA5GeneProductENSG00000135338 (Ensembl)
LRRC6GeneProductENSG00000129295 (Ensembl)
LZTFL1GeneProductENSG00000163818 (Ensembl)
MAKGeneProductENSG00000111837 (Ensembl)
MCIDASGeneProductENSG00000234602 (Ensembl)
MKKSGeneProductENSG00000125863 (Ensembl)
MKS1GeneProductENSG00000011143 (Ensembl)
NEK1GeneProductENSG00000137601 (Ensembl)
NEK2GeneProductENSG00000117650 (Ensembl)
NEK8GeneProductENSG00000160602 (Ensembl)
NEK9GeneProductENSG00000119638 (Ensembl)
NME7GeneProductENSG00000143156 (Ensembl)
NME9GeneProductENSG00000181322 (Ensembl)
NPHP1GeneProductENSG00000144061 (Ensembl)
NPHP3GeneProductENSG00000113971 (Ensembl)
NPHP4GeneProductENSG00000131697 (Ensembl)
OCRLGeneProductENSG00000122126 (Ensembl)
OFD1GeneProductENSG00000046651 (Ensembl)
PDE6DGeneProductENSG00000156973 (Ensembl)
PIBF1GeneProductENSG00000083535 (Ensembl)
PIH1D3GeneProductENSG00000080572 (Ensembl)
PIK3R4GeneProductENSG00000196455 (Ensembl)
PKD1GeneProductENSG00000008710 (Ensembl)
PKD1L1GeneProductENSG00000158683 (Ensembl)
PKD2GeneProductENSG00000118762 (Ensembl)
PKHD1GeneProductENSG00000170927 (Ensembl)
PLK4GeneProductENSG00000142731 (Ensembl)
POC1AGeneProductENSG00000164087 (Ensembl)
POC1BGeneProductENSG00000139323 (Ensembl)
POMGNT1GeneProductENSG00000085998 (Ensembl)
RAB23GeneProductENSG00000112210 (Ensembl)
RAB28GeneProductENSG00000157869 (Ensembl)
RP1GeneProductENSG00000104237 (Ensembl)
RP1L1GeneProductENSG00000183638 (Ensembl)
RP2GeneProductENSG00000102218 (Ensembl)
RPGRIP1GeneProductENSG00000092200 (Ensembl)
RPGRIP1LGeneProductENSG00000103494 (Ensembl)
RSPH1GeneProductENSG00000160188 (Ensembl)
RSPH3GeneProductENSG00000130363 (Ensembl)
RSPH4AGeneProductENSG00000111834 (Ensembl)
RSPH9GeneProductENSG00000172426 (Ensembl)
SCLT1GeneProductENSG00000151466 (Ensembl)
SDCCAG8GeneProductENSG00000054282 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SPAG1GeneProductENSG00000104450 (Ensembl)
SPATA7GeneProductENSG00000042317 (Ensembl)
SUFUGeneProductENSG00000107882 (Ensembl)
TAPT1GeneProductENSG00000169762 (Ensembl)
TBC1D32GeneProductENSG00000146350 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TCTN1GeneProductENSG00000204852 (Ensembl)
TCTN2GeneProductENSG00000168778 (Ensembl)
TCTN3GeneProductENSG00000119977 (Ensembl)
TMEM107GeneProductENSG00000179029 (Ensembl)
TMEM138GeneProductENSG00000149483 (Ensembl)
TMEM17GeneProductENSG00000186889 (Ensembl)
TMEM216GeneProductENSG00000187049 (Ensembl)
TMEM231GeneProductENSG00000205084 (Ensembl)
TMEM237GeneProductENSG00000155755 (Ensembl)
TMEM67GeneProductENSG00000164953 (Ensembl)
TOPORSGeneProductENSG00000197579 (Ensembl)
TRAF3IP1GeneProductENSG00000204104 (Ensembl)
TRIM32GeneProductENSG00000119401 (Ensembl)
TTBK2GeneProductENSG00000128881 (Ensembl)
TTC21BGeneProductENSG00000123607 (Ensembl)
TTC25GeneProductENSG00000204815 (Ensembl)
TTC8GeneProductENSG00000165533 (Ensembl)
TTLL5GeneProductENSG00000119685 (Ensembl)
TUBGeneProductENSG00000166402 (Ensembl)
TULP1GeneProductENSG00000112041 (Ensembl)
UNC119GeneProductENSG00000109103 (Ensembl)
USP9XGeneProductENSG00000124486 (Ensembl)
WDPCPGeneProductENSG00000143951 (Ensembl)
WDR19GeneProductENSG00000157796 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR35GeneProductENSG00000118965 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
XPNPEP3GeneProductENSG00000196236 (Ensembl)
ZIC2GeneProductENSG00000043355 (Ensembl)
ZMYND10GeneProductENSG00000004838 (Ensembl)
ZNF423GeneProductENSG00000102935 (Ensembl)

Annotated Interactions

No annotated interactions

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