Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion description "[The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion evidence source_evidence_curated NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion SIO_000772 10441571 NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion wasDerivedFrom uniprot-2016 NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion wasGeneratedBy ECO_0000218 NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance.