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- source_evidence_literature type ECO_0000212 NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_assertion description "[The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_assertion evidence source_evidence_literature NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_assertion SIO_000772 15138899 NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_assertion wasDerivedFrom befree-20140225 NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_assertion wasGeneratedBy ECO_0000203 NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP489822.RAI-_Wu3itnjfavleyyU7AIzAsZFDx6s69mL-yaOtj9xk130_provenance.