Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_assertion description "[Heterozygous optic atrophy type1 (OPA1) mutations are responsible for dominant optic atrophy, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_assertion evidence source_evidence_literature NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_assertion SIO_000772 21552501 NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_assertion wasDerivedFrom befree-2016 NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_assertion wasGeneratedBy ECO_0000203 NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.
- befree-2016 importedOn "2016-02-19" NP892501.RANsYA1RHesHCEO-P-2Bvuv3GouYMfzPsNGW8D16EtlDI130_provenance.