Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion description "[The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion evidence source_evidence_curated NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion SIO_000772 18637800 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion wasDerivedFrom ctd_human-20150221 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_assertion wasGeneratedBy ECO_0000218 NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP6500.RAgHCpn_BiZ_R_L4gMHzElYoIFprXeyQSs7sn6nY6ks-w130_provenance.