@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:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_head { this: np:hasAssertion dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_assertion; np:hasProvenance dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_provenance; np:hasPublicationInfo dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_publicationInfo; a np:Nanopublication . dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_assertion a np:Assertion . dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_provenance a np:Provenance . dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_publicationInfo a np:PublicationInfo . } dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_assertion { miriam-gene:10046 a ncit:C16612 . lld:C0266435 a ncit:C7057 . dgn-gda:DGN95dcbc3d4c7c5a099e977b5cf2a8447d sio:SIO_000628 miriam-gene:10046, lld:C0266435; a sio:SIO_001121 . } dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_provenance { dgn-np:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_assertion dcterms:description "[Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid scrotum, and penoscrotal hypospadias.]. 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:18635673; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP295382.RAB6skdouF5xa3awCJz1vy9mxZ2BILSc5jk4Qbq8ITlH8130_publicationInfo { this: dcterms:created "2014-10-02T12:34:48+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }