http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_head http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://identifiers.org/ncbigene/4914 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/gene-disease-association.ttl#DGNdbbb493ced6027b67e7e7a9fc6b7ab11 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4914 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdbbb493ced6027b67e7e7a9fc6b7ab11 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931876 http://rdf.disgenet.org/gene-disease-association.ttl#DGNdbbb493ced6027b67e7e7a9fc6b7ab11 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://purl.org/dc/terms/description [In fact, receptor rearrangements or point mutations convert RET and NTRK1 in dominantly acting transforming genes leading to thyroid tumors, whereas inactivating mutations, associated with Hirschsprung's disease (HSCR) and congenital insensitivity to pain with anhidrosis (CIPA), impair RET and NTRK1 functions, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12652644 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/dc/terms/created 2014-10-02T12:34:09+02:00 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP229880.RAo9x2dm4XzhT3jqOXH6JsYwrVJP0-mtXa1vWF7YPeepo http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0