http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#head http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#assertion http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#provenance http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#assertion http://rdf.disgenet.org/resource/gda/DGN0089ceee838bc0066379f4ba4eb504c7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/778 http://rdf.disgenet.org/resource/gda/DGN0089ceee838bc0066379f4ba4eb504c7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0752124 http://rdf.disgenet.org/resource/gda/DGN0089ceee838bc0066379f4ba4eb504c7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#provenance http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#assertion http://purl.org/dc/terms/description [The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in the CACNA1F gene, encoding alpha(1)1.4 subunits of L-type channels; and 2) a group of rare allelic autosomal dominant human neurological disorders including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6, all associated with mutations in the CACNA1A gene, encoding alpha(1)2.1 subunits of P/Q-type calcium channels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#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/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11890456 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#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/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/dc/terms/created 2017-10-17T13:11:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP152976.RAmJCfawf2rEYMHVYVF5I10UZKSUIASuQ39FtE4f52IL8 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