Gene Set Analysis

ciliopathy annotation

Paste a list of human gene symbols (from an RNA-seq experiment, CRISPR screen, proteomics dataset, or any other source). CiliaMiner annotates each against the curated catalogue and breaks down the hits by ciliopathy class, disease association, and functional category.

Gene list

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About Gene Set Analysis

Each input symbol is uppercased, deduplicated, and matched against the v15 catalogue’s gene index. Matched genes are aggregated by their ciliopathy class assignments (Primary, Tissue-restricted, Motile, Secondary), their associated diseases, their functional category, and their subcellular localization. Unmatched symbols are reported separately for transparency. Gene symbols not in the catalogue may still be ciliary — this catalogue covers ciliopathy-implicated genes with published patient-mutation + ciliary mechanism evidence, not the full ciliary proteome.