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- source_evidence_literature type ECO_0000212 NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_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." NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_assertion evidence source_evidence_literature NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_assertion SIO_000772 16144992 NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_assertion wasDerivedFrom befree-20150227 NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_assertion wasGeneratedBy ECO_0000203 NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP531391.RAr-N8OVf7DAD4-yPAsh7fSTAyKyBHV5CFDUk7aJUtjAs130_provenance.