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PathwaysReactions grouped under one name
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AnatomyTissues, by what is expressed there
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DiseasesFeatures, genes, and where each sits

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Reference

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Outcomes
Proteins
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Reactions
Reach

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Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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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

COL1A2-related osteogenesis imperfecta

MONDO:0100596Mondo

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Findings

No curated finding names COL1A2-related osteogenesis imperfecta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene.

Definition from the Mondo Disease Ontology (MONDO:0100596), 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.

COL1A2HGNC:2198
- Definitive · ClinGen · Autosomal dominant · 2022

Where it sits

A kind of: osteogenesis imperfecta