Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion description "[Genetic studies in humans have shown that large intronic deletions in WNK1 lead to its overexpression and are responsible for pseudohypoaldosteronism type II, an autosomal dominant disorder characterized by hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion evidence source_evidence_literature NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion SIO_000772 14610273 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion wasDerivedFrom befree-2016 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion wasGeneratedBy ECO_0000203 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- befree-2016 importedOn "2016-02-19" NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.