Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_assertion description "[DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_assertion evidence source_evidence_literature NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_assertion SIO_000772 17213252 NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_assertion wasDerivedFrom befree-20140225 NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_assertion wasGeneratedBy ECO_0000203 NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP383919.RAovs1ZHCCpCXKCZ3TMKLr00Z-Mq8kS6oXx7NMWa-1DYE130_provenance.