This data warehouse was used to explore, using the frequency and term frequency–inverse document frequency (TF-IDF), the association between clinical phenotypes and rare diseases such as the potassium voltage-gated channel subfamily A member 2 variant in neurodevelopmental syndromes [138], Dravet syndrome [125], ciliopathy [139], and other rare diseases [136]. The gene discussed is KCNA2; the disease is ciliopathy.