About CiliaMiner

CiliaMiner v2 is a manually curated ciliopathy database. Search by gene symbol, gene synonym, disease name, or clinical concept to explore associations across 604 genes, 104 diseases, and 347 HPO-coded symptoms.

• Search — this page: gene table with class, localization, disease, OMIM
• Classification — 4-class taxonomy (Primary / Tissue-restricted / Motile / Secondary) with per-disease rationale
• Symptoms — browse 347 HPO concepts by organ system, see diseases exhibiting each
• Compare — pick 2–4 ciliopathies, see shared vs unique symptoms
• CilioSymptom — paste a clinical vignette, get ranked candidate ciliopathies (benchmarked 98–100% top-1 retrieval)
• Gene Sets — paste a gene list (RNA-seq / screen / panel), get ciliopathy annotation + charts