http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_head http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://identifiers.org/ncbigene/9351 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/DGNb795ea18d9582e9c6a5c7ce5e7a64084 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9351 http://rdf.disgenet.org/resource/gda/DGNb795ea18d9582e9c6a5c7ce5e7a64084 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/resource/gda/DGNb795ea18d9582e9c6a5c7ce5e7a64084 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_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/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16618617 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/dc/terms/created 2016-05-13T12:45:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP545152.RA2ePBbeCUJ0rN8xFVZxlZg2j5pvYSrDOlmZYIcI8uMQQ http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0