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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

non-severe combined immunodeficiency due to COPG1 deficiency

MONDO:0800136Mondo

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Findings

No curated finding names non-severe combined immunodeficiency due to COPG1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.

Definition from the Mondo Disease Ontology (MONDO:0800136), 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.

COPG1HGNC:2236
- Limited · ClinGen · Autosomal recessive · 2024

Where it sits

A kind of: non-SCID combined immunodeficiency