http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#head http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#assertion http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#provenance http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#assertion http://rdf.disgenet.org/resource/gda/DGNf591a15465d567269db58b760bdec8c2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5979 http://rdf.disgenet.org/resource/gda/DGNf591a15465d567269db58b760bdec8c2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020074 http://rdf.disgenet.org/resource/gda/DGNf591a15465d567269db58b760bdec8c2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#provenance http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#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/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#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/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12652644 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#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/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/dc/terms/created 2017-10-17T13:15:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP903754.RAgaivFB9R24wEhiUr-BBqfHhVat2fKjGgHnjOtoEqYlw 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