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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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ReactionsRhea and Human-GEM, by subsystem
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PathwaysReactions grouped under one name
ProcessesWhat proteins are annotated as doing
AnatomyTissues, by what is expressed there
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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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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

neuromuscular disease caused by qualitative or quantitative defects of titin

MONDO:0016191Mondo

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Findings

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

Where it sits

A kind of: qualitative or quantitative protein defects in neuromuscular diseases
Narrower terms (1): TTN-related myopathy

Other names

1 name

Resolves to: neuromuscular disease caused by qualitative or quantitative defects of titin

Also called: qualitative or quantitative defects of titin