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CompoundsSubstances with curated findings
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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

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

CACNA1C-related disorder

MONDO:0700321Mondo

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Findings

No curated finding names CACNA1C-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any human disease (syndromic or non syndromic) in which the cause of the disease is a variation in the CACNA1C gene.

Definition from the Mondo Disease Ontology (MONDO:0700321), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: hereditary disease
Narrower terms (4): Brugada syndrome 3
long QT syndrome 8
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Timothy syndrome