http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#head
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#assertion
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#provenance
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#assertion
http://rdf.disgenet.org/resource/gda/DGN8b24b1c1310f5a363cf67d7478a16762
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6663
http://rdf.disgenet.org/resource/gda/DGN8b24b1c1310f5a363cf67d7478a16762
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1258666
http://rdf.disgenet.org/resource/gda/DGN8b24b1c1310f5a363cf67d7478a16762
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#provenance
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#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/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#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/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20130826
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#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/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/dc/terms/created
2017-10-17T13:16:24+02:00
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP973877.RAGT1DDMXJ-3ZN2sS_7Yo5MI6Eg6kkm2CukaAoFHMfV18
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