Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_assertion description "[Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_assertion evidence source_evidence_curated NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_assertion SIO_000772 10521292 NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_assertion wasDerivedFrom uniprot-20150221 NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_assertion wasGeneratedBy ECO_0000218 NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3549.RAkKVbPdDbJn3QO4dNS4W0UhFphvlDEiOFI984RfuPSmY130_provenance.