Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_assertion description "[Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_assertion evidence source_evidence_curated NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_assertion SIO_000772 23161826 NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_assertion wasDerivedFrom uniprot-20150221 NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_assertion wasGeneratedBy ECO_0000218 NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4421.RALQlO5dEZY7rsgIbLZuN_SPiugjTxUns3QoXtxhp6xlI130_provenance.