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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
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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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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

SMARCB1-deficient kidney medullary carcinoma

MONDO:0100534Mondo

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Findings

No curated finding names SMARCB1-deficient kidney medullary carcinoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.

Definition from the Mondo Disease Ontology (MONDO:0100534), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: kidney medullary carcinoma
Narrower terms (3): aniridia 2
aniridia 3
PAX6-related ocular dysgenesis