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Standards Ontologies Notations
ciliopathy

Summary
Definition
A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
Super Class
monogenic disease syndrome
Disease Ontology
DOID:0060340
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
123016 TTC8 tetratricopeptide repeat domain 8
Displaying all 8 entries
Gene ID Gene Symbol Description Source
12858 Cox5a cytochrome c oxidase subunit 5A
18764 Pkd2 polycystin 2, transient receptor potential cation channel
24064 Spry2 sprouty RTK signaling antagonist 2
56297 Arl6 ADP-ribosylation factor-like 6
74477 4933427D14Rik RIKEN cDNA 4933427D14 gene
212139 Cc2d1a coiled-coil and C2 domain containing 1A
216274 Cep290 centrosomal protein 290
329795 Tmem67 transmembrane protein 67
Displaying 1 entry
Gene ID Gene Symbol Description Source
252934 Cox5a cytochrome c oxidase subunit 5A
Displaying 1 entry
Gene ID Gene Symbol Description Source
432387 pkd2 polycystic kidney disease 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
178424 pkd-2 Polycystin-2
Displaying 1 entry
Gene ID Gene Symbol Description Source
856502 KIC1 putative serine/threonine protein kinase KIC1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024