Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_assertion description "[It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_assertion evidence source_evidence_curated NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_assertion SIO_000772 21990100 NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_assertion wasDerivedFrom uniprot-20150221 NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_assertion wasGeneratedBy ECO_0000218 NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP20.RAX_yxGjUgEs4jtzEfN4Oe_OdIvJlb7disynXUO5TYnO0130_provenance.