Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_assertion description "[Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_assertion evidence source_evidence_curated NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_assertion SIO_000772 20597900 NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_assertion wasDerivedFrom uniprot-2016 NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_assertion wasGeneratedBy ECO_0000218 NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6277.RA1K4ofTkTEW_GmjIxszvF90laDQ1f8rPFgfszrdjMyvU130_provenance.