Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_assertion description "[Multiple carboxylase deficiency (MCD, MIM:253270) is a common organic aciduria and caused by deficiency of either biotinidase or holocarboxylase synthetase (HLCS; EC 6.3.4.10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_assertion evidence source_evidence_curated NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_assertion SIO_000772 12633764 NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_assertion wasDerivedFrom uniprot-20150221 NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_assertion wasGeneratedBy ECO_0000218 NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2799.RAuKc4dq_kB7WHJsOLU6jAKkS3VkCryXw9FyG3OtJEE9U130_provenance.