Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_assertion description "[X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_assertion evidence source_evidence_curated NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_assertion SIO_000772 7920659 NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_assertion wasDerivedFrom uniprot-2016 NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_assertion wasGeneratedBy ECO_0000218 NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8623.RAcvlT7_PQra1T9EIthPnCJN_bhcazhtTm2TonhEhTY5s130_provenance.