Reference

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

SQSTM1-related multisystem proteinopathy

MONDO:0800464Mondo

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Findings

No curated finding names SQSTM1-related multisystem proteinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.

Definition from the Mondo Disease Ontology (MONDO:0800464), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: inborn errors of metabolism
proteostasis deficiencies
Narrower terms (3): frontotemporal dementia and/or amyotrophic lateral sclerosis 3
myopathy, distal, with rimmed vacuoles
Paget disease of bone 3