Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_assertion description "[A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_assertion evidence source_evidence_curated NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_assertion SIO_000772 7608290 NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_assertion wasDerivedFrom ctd_human-20130708 NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_assertion wasGeneratedBy ECO_0000218 NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP18484.RAsTQayptX44sW4C3RRmY_VexfTnhCpSgLiEONr9uceW0130_provenance.