Locus-specific data, from literature catalog to clinical evidence, are captured by automated and manual curation. Total number of PMIDs with available PubMed year of discovery or earliest mention in indexed literature (as of November 25, 2024). Loci are colored and sized by the number of independent observations, defined as unrelated cases/pedigrees as documented in OMIM, GeneReviews, and research literature. Jitter is used to separate data points; years are considered as whole integers
