Catalyst

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

Atlas Graph Twin Access

Search the graph

Search ?

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

Loading the page.

Catalyst

Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

The graph

Compounds
Outcomes
Proteins
Atlas
Interactions
Papers
Articles
Graph
Search

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases
Reactions
Reach

How it works

Mission
Method
Twin
How to read the evidence
Sources and licences

Build on it

Access
In your assistant
For agents
Query the graph
Bulk export

A reference for what the literature reports. Not medical advice.

Disease

BEST1-related dominant retinopathy

MONDO:0700238Mondo

Open in the graph

Findings

No curated finding names BEST1-related dominant retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any retinopathy caused by a heterozygous variant in the BEST1 gene.

Definition from the Mondo Disease Ontology (MONDO:0700238), 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.

BEST1HGNC:12703
- Definitive · ClinGen · Autosomal dominant · 2023

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): vitelliform macular dystrophy 2