http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#head http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#provenance http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://rdf.disgenet.org/resource/gda/DGN8c154e72332fc39034f5d5bf99f1b665 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2741 http://rdf.disgenet.org/resource/gda/DGN8c154e72332fc39034f5d5bf99f1b665 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085292 http://rdf.disgenet.org/resource/gda/DGN8c154e72332fc39034f5d5bf99f1b665 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#provenance http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://purl.org/dc/terms/description [In its familial form, hyperekplexia has been associated with both dominant and recessive mutations of the GLRA1 gene encoding the glycine receptor alpha1 subunit (GlyRalpha1), which mediates inhibitory transmission in the spinal cord and brainstem.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12169101 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/dc/terms/created 2017-10-17T13:13:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP447580.RAuczFIx-9CmOaacXzY9GHQJZrenE04SkK-6ZKrDr_jHA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0