46 ALS genes, one live evidence graph

The 46 seed genes resolve to UniProt accessions, then query across five more sources. The responses are cached on disk and normalized into a small database: genes, interactions, variants, pathways, disease associations, drugs, and papers. The graph that results carries 405 interaction edges, 2,424 variants, 163 Reactome pathways, and 362 papers with 244 distinct PubMed ids.

Wiping the cache and running again rebuilds the database to the same shape, which is the test that no row was seeded by hand. The full provenance, with spot-checked records and their source URLs, ships with the project.

Genes are scored on a weighted blend of Open Targets association, ClinVar pathogenicity, pathway and network centrality, literature volume and citation quality, and druggability. The ALS association column is the Open Targets score for the gene against amyotrophic lateral sclerosis. Click a row for a plain-language breakdown, including the published share of familial and sporadic ALS and the phenotype specificity (from GeneReviews where available; formal per-gene sensitivity and specificity are not standard).

Open Targets returns 110 drugs and clinical candidates whose molecular target is one of the panel genes, with real ChEMBL ids and development stages. TOFERSEN, the approved SOD1 antisense therapy, is among them. Most-advanced shown first. Click a row for the drug detail.

Click a row to see which panel genes share the pathway.

The pipeline writes one hypothesis per pattern it finds in the graph: two ALS genes sharing a cell process, two proteins that work together, or a gene with disease-causing variants that links to a known ALS gene. Many read alike, so open one to see what sets it apart and to walk through how the pipeline got there, step by step. Search the text, or filter by mechanism type and confidence.

Nodes are panel genes; lines are STRING interactions between two panel genes at confidence 0.7 or higher. A node grows with its betweenness, a measure of how often it sits on the shortest path between two other panel genes, so the bridge genes read largest. Rust marks a gene with an Open Targets ALS association of 0.5 or higher; pacific marks the rest. Pick a layout to redraw the network, drag a node to move it, or rotate the whole view. Hover a node to trace its links, or click one to open its row in the gene table above.