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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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ReactionsRhea and Human-GEM, by subsystem
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DiseasesFeatures, genes, and where each sits

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Reference

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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

HBA1-related alpha thalassemia spectrum

MONDO:0100561Mondo

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Findings

No curated finding names HBA1-related alpha thalassemia spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Mild microcytic anemia caused by biallelic variation in the HBA1 gene.

Definition from the Mondo Disease Ontology (MONDO:0100561), 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.

HBA1; HBA2HGNC:4823
- Definitive · ClinGen · Autosomal recessive · 2024

Where it sits

A kind of: monogenic alpha thalassemia spectrum