Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_assertion description "[Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_assertion evidence source_evidence_literature NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_assertion SIO_000772 25182139 NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_assertion wasDerivedFrom befree-2016 NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_assertion wasGeneratedBy ECO_0000203 NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1216225.RAlUIamaJg6-2tUxV5s4KrlortXHsoRGx6nNGfMQiQIyY130_provenance.