http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_head http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_provenance http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://identifiers.org/ncbigene/6376 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2931876 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNd179d080272630d494ef179e24af6f05 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6376 http://rdf.disgenet.org/resource/gda/DGNd179d080272630d494ef179e24af6f05 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/resource/gda/DGNd179d080272630d494ef179e24af6f05 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_provenance http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://purl.org/dc/terms/description [Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16618617 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/dc/terms/created 2015-08-25T14:44:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP687345.RALSYp8rANL2FXuSLLGkMwcQazrkDwPfbIn1eEnVPzK7U http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0