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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
External Links
Disease Ontology
DOID:0060340
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5311 PKD2 polycystin 2, transient receptor potential cation channel
Displaying 1 entry
Gene ID Gene Symbol Description Source
56297 Arl6 ADP-ribosylation factor-like 6
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024