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- source_evidence_literature type ECO_0000212 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion description "[Deficiency of MVK is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe form and hyper-immunoglobulin-D syndrome (HIDS), a milder form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion evidence source_evidence_literature NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion SIO_000772 26420133 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion wasDerivedFrom befree-2016 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion wasGeneratedBy ECO_0000203 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.