http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#head http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#assertion http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#provenance http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#assertion http://rdf.disgenet.org/resource/gda/DGNd75f293588132c7e421c6cd9074fd12c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8929 http://rdf.disgenet.org/resource/gda/DGNd75f293588132c7e421c6cd9074fd12c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020681 http://rdf.disgenet.org/resource/gda/DGNd75f293588132c7e421c6cd9074fd12c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#provenance http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#assertion http://purl.org/dc/terms/description [We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying congenital central hypoventilation syndrome (CCHS, or Ondine curse), with an autosomal dominant mode of inheritance and de novo mutation at the first generation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#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/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15657873 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#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/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/dc/terms/created 2017-10-17T13:17:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1168116.RAiidKv-rxgEEI2HxbARMGtJpjyG_kB23NihEofdes9ik 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