About CiliaMiner

A curated ciliopathy database for clinical and translational research.

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Ciliopathy genes

Curated genes with at least one ciliopathy association

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Ciliopathies

Distinct disease entries in the catalogue

2,180

Candidate genes

Cilia-related genes not yet linked to a specific disease

Overview

CiliaMiner is a curated knowledgebase of human ciliopathies — genetic disorders caused by defects in primary, motile, or sensory cilia. The database links genes, diseases, and clinical features through a single relational layer that supports diagnostic reasoning, variant prioritisation, and comparative analysis.

Symptom records are derived from OMIM clinical synopses and mapped to canonical concepts in the Human Phenotype Ontology (HPO). Disease classifications are curated from the literature into four functional groups: primary, secondary, motile, and tissue-restricted ciliopathies.

How to cite

If you use CiliaMiner in your work, please cite:

Turan M.G., Orhan M.E., et al. CiliaMiner: a manually curated database of ciliopathies and ciliary genes. Database (Oxford). 2023.

doi.org/10.1093/database/baad047

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Sources

OMIMClinical synopses for each disease
Human Phenotype OntologyCanonical phenotype concepts and ID space
EnsemblGene identifiers, transcript coordinates
UniProtProtein sequences and functional annotation
ClinVarVariants and clinical significance