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Evidence

CompoundsSubstances with curated findings
OutcomesMeasured endpoints
ProteinsTransporters and enzymes
InteractionsPairs that share biology
PapersEvery paper a finding cites
ArticlesReadings of the evidence

Chemistry

ReactionsRhea and Human-GEM, by subsystem
ReachWhat a compound can become

Reference layer

PathwaysReactions grouped under one name
ProcessesWhat proteins are annotated as doing
AnatomyTissues, by what is expressed there
Cell typesCells, by what is expressed there
OrganismsSpecies a compound is prepared from
MaterialsSubstances that are not one molecule
AssessmentsRegulatory determinations, transcribed
DiseasesFeatures, genes, and where each sits

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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

Atlas Graph Twin Access

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Catalyst

Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

qualitative or quantitative defects of desmin

MONDO:0016187Mondo

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Findings

No curated finding names qualitative or quantitative defects of desmin yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of: hereditary neurological disease
neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins
Narrower terms (4): autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
dilated cardiomyopathy 1I
myofibrillar myopathy 1
neurogenic scapuloperoneal syndrome, Kaeser type