Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_assertion description "[We found that mutations of GTP cyclohydrolase I, the rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the cofactor of dopamine-synthesizing tyrosine hydroxylase, cause dominantly inherited hereditary progressive dystonia with marked diurnal fluctuation (HPD, Segawa's disease) probably owing to the decrease of dopamine in the basal ganglia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_assertion evidence source_evidence_literature NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_assertion SIO_000772 9205791 NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_assertion wasDerivedFrom befree-20140225 NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_assertion wasGeneratedBy ECO_0000203 NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP350718.RA-GE_Zej7HwcuKDYjDpz1rBGC5haavC_LJOpBV9VkTOo130_provenance.