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- source_evidence_literature type ECO_0000212 NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_assertion description "[Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_assertion evidence source_evidence_literature NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_assertion SIO_000772 8598644 NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_assertion wasDerivedFrom befree-20150227 NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_assertion wasGeneratedBy ECO_0000203 NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP310477.RAZp-w3xgLkKmGYAx2l2JY3YlTdtO6Zv3HXxBTR97hcGo130_provenance.