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CompoundsSubstances with curated findings
OutcomesMeasured endpoints
ProteinsTransporters and enzymes
InteractionsPairs that share biology
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ReactionsRhea and Human-GEM, by subsystem
ReachWhat a compound can become

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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

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Outcomes
Proteins
Interactions
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Chemistry

Reactions
Reach

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Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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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

ACTL6A-related BAFopathy

MONDO:0700121Mondo

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Findings

No curated finding names ACTL6A-related BAFopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.

Definition from the Mondo Disease Ontology (MONDO:0700121), read 2026-09-29. CC BY 4.0.

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ACTL6AHGNC:24124
- Moderate · ClinGen · Autosomal dominant · 2026
- Moderate · G2P · Autosomal dominant · 2026

Where it sits

A kind of: BAFopathy