@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_head { this: np:hasAssertion dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_assertion; np:hasProvenance dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_provenance; np:hasPublicationInfo dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_publicationInfo; a np:Nanopublication . dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_assertion a np:Assertion . dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_provenance a np:Provenance . dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_publicationInfo a np:PublicationInfo . } dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_assertion { miriam-gene:50506 a ncit:C16612 . lld:C0010308 a ncit:C7057 . dgn-gda:DGN96e9a8692b9c3e368f079dcadf95ca26 sio:SIO_000628 miriam-gene:50506, lld:C0010308; a sio:SIO_001121 . } dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_provenance { dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_assertion dcterms:description "[Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16134168; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP511528.RAKe2EfL6zENuisnDrkN3tsJKXJcMjh-SjuWwGMGplExo130_publicationInfo { this: dcterms:created "2016-05-13T12:45:36+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }