http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_head http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_provenance http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://identifiers.org/ncbigene/7038 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/C0349476 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/DGN9a8c05c3a2c499435dcd42d11f1bd41c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7038 http://rdf.disgenet.org/resource/gda/DGN9a8c05c3a2c499435dcd42d11f1bd41c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0349476 http://rdf.disgenet.org/resource/gda/DGN9a8c05c3a2c499435dcd42d11f1bd41c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_provenance http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://purl.org/dc/terms/description [This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and low, normal or high serum T(3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_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/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20093166 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_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/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/dc/terms/created 2015-08-25T14:45:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP730967.RAAQ55ShX6jrUSfZnoX1RlMgV_EAo4MEbWutG451XFexI 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