Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_assertion description "[A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_assertion evidence source_evidence_curated NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_assertion SIO_000772 10958761 NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_assertion wasDerivedFrom uniprot-2016 NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_assertion wasGeneratedBy ECO_0000218 NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP980.RAqeQs6Vn55NzdfstDKA6gUrT5TQPVv-8HarCdQxz5xns130_provenance.