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- source_evidence_literature type ECO_0000212 NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_assertion description "[Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 or NPC2, resulting in an accumulation of cholesterol in the endosomal-lysosomal system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_assertion evidence source_evidence_literature NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_assertion SIO_000772 23010472 NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_assertion wasDerivedFrom befree-2016 NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_assertion wasGeneratedBy ECO_0000203 NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1015643.RAyodS1jkKm3aCGFWeBeO-n0LlQIxpagqzR6P67urFsLM130_provenance.