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- source_evidence_literature type ECO_0000212 NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- befree-2016 importedOn "2016-02-19" NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_assertion wasGeneratedBy ECO_0000203 NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_assertion wasDerivedFrom befree-2016 NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_assertion SIO_000772 21544567 NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_assertion evidence source_evidence_literature NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.
- NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_assertion description "[While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were reported with skeletal and cardiac muscle disease only.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP891868.RAC-rMmWEqfyuengMJo4LT4kmRXgSgmRwoGjBiQ4yZfhk130_provenance.