Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_assertion description "[A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_assertion evidence source_evidence_curated NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_assertion SIO_000772 25439727 NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_assertion wasDerivedFrom uniprot-2016 NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_assertion wasGeneratedBy ECO_0000218 NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8078.RAW8JmRrxQH-FVF8V1UPyWJIvI_IoB1SM3oRdbviYQpm8130_provenance.