http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#head http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#assertion http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#provenance http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#assertion http://rdf.disgenet.org/resource/gda/DGNf4abf0227439b921c2c6b157bcabeaed http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6663 http://rdf.disgenet.org/resource/gda/DGNf4abf0227439b921c2c6b157bcabeaed http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085648 http://rdf.disgenet.org/resource/gda/DGNf4abf0227439b921c2c6b157bcabeaed http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#provenance http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#assertion http://purl.org/dc/terms/description [Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic megacolon or Hirschsprung disease (HSCR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#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/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20130826 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#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/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/dc/terms/created 2017-10-17T13:16:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP973775.RAl_3edqTpBWct2HfQFD69-8hnaZjEyn9ZjOcxkFJdrxg 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