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- source_evidence_literature type ECO_0000212 NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_assertion description "[Hereditary haemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by localized angiodysplasia due to mutations in endoglin, ALK-1 gene, and a still unidentified locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_assertion evidence source_evidence_literature NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_assertion SIO_000772 16429404 NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_assertion wasDerivedFrom befree-2016 NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_assertion wasGeneratedBy ECO_0000203 NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.
- befree-2016 importedOn "2016-02-19" NP532306.RAMYN5KLcxTqFaQc8wID-UeI_rts7ycJClWZqNUencRg0130_provenance.