Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_assertion description "[Homozygous and compound heterozygous mutations in SLC34A3, the gene encoding the sodium-dependent co-transporter NaPi-IIc, cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate-wasting resulting in hypophosphatemia, elevated 1,25(OH)(2) vitamin D levels, hypercalciuria, rickets/osteomalacia, and frequently kidney stones or nephrocalcinosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_assertion evidence source_evidence_literature NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_assertion SIO_000772 22387237 NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_assertion wasDerivedFrom befree-20140225 NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_assertion wasGeneratedBy ECO_0000203 NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP213889.RACPEvWhitKc0uo-rbXeOR_LgTTSGdW4ms1ea08kenFAg130_provenance.