Hello Genome Browser enthusiasts,
This track shows nearly 8000 gene-disease associations on hg19 and hg38. This data track includes information on human disorders and epidemiological information including Human Phenotype Ontology (HPO) disorder name, association type, modes of inheritance, age of first symptoms, and population disease prevalence (if available). For ease of use, we added mouseover information and a variety of filters. See our full announcement here:
See this track along with a few other popular clinical tracks here:
We would like to thank the Orphanet team for providing this data. We would also like to thank the UCSC affiliates Chris Lee, Tiana Pereira, and Daniel Schmelter for the creation and release of these tracks.
Happy Browsing!
UCSC Genome Browser Team