Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion description "[Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion evidence source_evidence_curated NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion SIO_000772 16648378 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion wasDerivedFrom uniprot-20130724 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_assertion wasGeneratedBy ECO_0000218 NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP7081.RAzvEbqm6dlcg93Oim1eIjgRXcONTZ7wiAxpQv-QRWhF0130_provenance.