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- source_evidence_literature type ECO_0000212 NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_assertion description "[Some patients with hypertrophic cardiomyopathy (HCM) or left ventricular hypertrophy also present with skeletal myopathy and Wolff-Parkinson-White (WPW) syndrome; mutations in the gene encoding the lysosome-associated protein-2 (LAMP-2) have been identified in these patients, suggesting that some of these patients have Danon disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_assertion evidence source_evidence_literature NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_assertion SIO_000772 16144992 NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_assertion wasDerivedFrom befree-2016 NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_assertion wasGeneratedBy ECO_0000203 NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.
- befree-2016 importedOn "2016-02-19" NP512335.RAzuEJozlO9uE9uQpX_NEj8SAG4UhZDMi_f3be65W18Fw130_provenance.