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- source_evidence_literature type ECO_0000212 NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion wasGeneratedBy ECO_0000203 NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion wasDerivedFrom befree-2016 NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion SIO_000772 9633819 NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion evidence source_evidence_literature NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.
- NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_assertion description "[Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lysosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1397733.RASbWjipvlJ7o75D-l-JOdSjMDUEN5UNQOBXeh-M1oiwI130_provenance.