Disease Nodes

Disease pages resolve ontology-backed disorders and layer IGVF relationship data on top of the shared node shell.

Association Network

The page pulls up to 50 disease–gene links from api/catalog/diseases/genes (Homo sapiens) and renders them with a force-directed canvas.
Node radius scales with connection count; teal nodes are diseases, coral nodes are genes. Hovering shows tooltip context and clicking a gene routes to its /ENSG* page.
Edge opacity reflects assertion strength (Pathogenic > Likely pathogenic > … > Benign), signalling confidence before consulting tabular evidence.

Parent and child term tables expose relationship type, target term ID/name, description, source URI, subontology, and synonyms.
Tables support column sorting and sticky headers, and synonym lists stay expandable for lengthy vocabularies.
When related terms exist, the “Enter Closure End” prompt opens /[node_id]/closure/[end_id] so curators can explore the transitive closure graph without leaving the page.

Associated Variant: ClinGen assertions from api/diseases/variants list rsIDs (linked to /rs* views), implicated genes, assertion labels, supporting PMIDs (expandable), and the reporting source/URL.
Files & Filesets: IGVF/ENCODE entries from api/files-filesets scoped by sample_term. Columns cover fileset accession, assay titles, method/class, software, sample summaries, ontology samples/donors (converted to internal links), and source labels.
Both tables offer search, pagination (25 rows per request), CSV export, and X-Ray instrumentation.

Disease definitions cite Orphanet (and related ontologies) through the catalog’s external attribution list.
Variant assertions reference ClinGen, giving reviewers a direct line back to the curation authority.

Together the disease node experience ties ontology metadata to IGVF gene, variant, and assay evidence while keeping provenance explicit.