@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:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_head { this: np:hasAssertion dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_assertion; np:hasProvenance dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_provenance; np:hasPublicationInfo dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_publicationInfo; a np:Nanopublication . dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_assertion a np:Assertion . dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_provenance a np:Provenance . dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_publicationInfo a np:PublicationInfo . } dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_assertion { miriam-gene:5443 a ncit:C16612 . lld:C0001403 a ncit:C7057 . dgn-gda:DGN504acc3deae3c2727535c4416c8e16b4 sio:SIO_000628 miriam-gene:5443, lld:C0001403; a sio:SIO_001121 . } dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_provenance { dgn-np:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_assertion dcterms:description "[Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, hypoglycemia and hypocortisolism) the patient was diagnosed as POMC deficiency and the diagnosis was confirmed by genetic studies.]. 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:19998238; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP633763.RAwaZoSV3blUXm-XV5RAJg2ZOrxsHuhn0R6XEqag-wvVI130_publicationInfo { this: dcterms:created "2015-08-25T14:43:59+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }