http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_head http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_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/C0040136 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#DGN7a32431c0a637e176e0bdb84e4ef57e8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4914 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7a32431c0a637e176e0bdb84e4ef57e8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0040136 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7a32431c0a637e176e0bdb84e4ef57e8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_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#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_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#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12652644 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_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#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_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#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/dc/terms/created 2014-10-02T12:37:37+02:00 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP559632.RAn1nPZcYU1bWN5aHqvhiZ1XTL-Y6WdXCfvuU-SDumfrc 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