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- SIO_001119 description "A gene-variant disease association in which a mutation in the gene/protein results in the development or maintenance of the disease.".
- SIO_001119 identifier "SIO_001119".
- SIO_001119 type Class.
- SIO_001119 isDefinedBy sio.owl.
- SIO_001119 label "gene-disease association linked with causal mutation".
- SIO_001119 subClassOf SIO_001122.