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- source_evidence_literature type ECO_0000212 NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_assertion description "[Chorea-acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_assertion evidence source_evidence_literature NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_assertion SIO_000772 16874760 NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_assertion wasDerivedFrom befree-2016 NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_assertion wasGeneratedBy ECO_0000203 NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.
- befree-2016 importedOn "2016-02-19" NP561797.RAdubxLGXIo0DsCDz8SaSMXap4fAu8HowkGMI0ZzJCAp4130_provenance.