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Standards Ontologies Notations
Guidelines
MIRAGE
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 1 entry
Gene ID Gene Symbol Description Source
24064 Spry2 sprouty RTK signaling antagonist 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
432387 pkd2 polycystic kidney disease 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6IVV8 Polycystin-2
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International Collaboration

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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Last updated: April 7, 2025