Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_assertion description "[Mutations in the ACTN4 gene cause focal segmental glomerulosclerosis (FSGS), which shows autosomal dominant inheritance (Online Mendelian Inheritance in Man No.603278, FSGS1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_assertion evidence source_evidence_curated NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_assertion SIO_000772 18436095 NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_assertion wasDerivedFrom uniprot-2016 NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_assertion wasGeneratedBy ECO_0000218 NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5358.RAiJExQrcSFJlj9ty_I_q6PLxpezdKgy7_exOdPI_MLwA130_provenance.