@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:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_head { this: np:hasAssertion dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_assertion; np:hasProvenance dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_provenance; np:hasPublicationInfo dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_publicationInfo; a np:Nanopublication . dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_assertion a np:Assertion . dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_provenance a np:Provenance . dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_publicationInfo a np:PublicationInfo . } dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_assertion { miriam-gene:9049 a ncit:C16612 . lld:C0032019 a ncit:C7057 . dgn-gda:DGN8d76ad146b27aa9b2397395b6d640792 sio:SIO_000628 miriam-gene:9049, lld:C0032019; a sio:SIO_001121 . } dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_provenance { dgn-np:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_assertion dcterms:description "[To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly.]. 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:21778740; 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:NP814144.RAeKwKi3he_mDEk9uDBL22JM-YFoxFJirldijT8jc7toc130_publicationInfo { this: dcterms:created "2015-08-25T14:45:53+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" . }