Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_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." NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_assertion evidence source_evidence_curated NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_assertion SIO_000772 10521292 NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_assertion wasDerivedFrom uniprot-2016 NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_assertion wasGeneratedBy ECO_0000218 NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP421.RAbM5GFacBOUCoJb_6xiPvtuNw8v7AVYOkJqMubNa9OpM130_provenance.