Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_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." NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_assertion evidence source_evidence_curated NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_assertion SIO_000772 10441571 NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_assertion wasDerivedFrom uniprot-20130724 NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_assertion wasGeneratedBy ECO_0000218 NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4792.RAaK3mKCeXcj6ekGfV6zA4TKd7cp3gXtwx1tWk47q5DD0130_provenance.