IMD disease hub — coverage, biomarkers & figures
The disease-centric complement to /e/imdCoverage (which is figure-centric). One row per inherited metabolic disease: its causal gene → the VMH reaction that gene catalyses → WBM organ coverage → which textbook pathway figure covers it (Saudubray / Zschocke) → its diagnostic biomarkers linked to VMH metabolites → treatability and ICIMD nosology group. This is the layer that ties the pathway audits, the metabolite work and the biomarker data together through the disease.
1064
Diseases
120 ICIMD groups
696
Gene in a recon
65%
583
Gene in the WBMs
55%
370
No VMH reaction
35%
202
Treatable
per IEMbase
419
In a book figure
Saudubray / Zschocke
VMH coverage of the causal gene
|
1066 diseases of 1066
Notes & provenance
- Built from
reconws_iem_biomarkers(disease ↔ gene ↔ ICIMD group ↔ biomarker ↔ VMH metabolite ↔ treatability), joined to the recon-union and WBM GPRs for coverage, and to the Saudubray/Zschocke figure audits for the figure column. - Coverage is gene-anchored: “in WBM” means a reaction carrying the disease gene exists in a whole-body model. The linked VMH reaction is a representative reaction for that gene, not necessarily the exact defective step.
- “No VMH reaction” is common for transport/regulatory/structural disease genes that a stoichiometric metabolic reconstruction legitimately does not contain.
- Snapshot from the local
reconDBdelta; regenerate to refresh. Curator CC, 2026-07-15.
Disease, gene, reaction and metabolite names link to their VMH pages.