Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_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." NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_assertion evidence source_evidence_literature NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_assertion SIO_000772 9205791 NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_assertion wasDerivedFrom befree-2016 NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_assertion wasGeneratedBy ECO_0000203 NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1375913.RAyNDXv6m41I7GI8C5Uf68IWG_EKAjK6A6PdTI6PP2Ftk130_provenance.