@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:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_head { this: np:hasAssertion dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_assertion; np:hasProvenance dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_provenance; np:hasPublicationInfo dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_publicationInfo; a np:Nanopublication . dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_assertion a np:Assertion . dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_provenance a np:Provenance . dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_publicationInfo a np:PublicationInfo . } dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_assertion { miriam-gene:8829 a ncit:C16612 . lld:C0812437 a ncit:C7057 . dgn-gda:DGNc49b35e756459e93a13901e29c806eb4 sio:SIO_000628 miriam-gene:8829, lld:C0812437; a sio:SIO_001121 . } dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_provenance { dgn-np:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_assertion dcterms:description "[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. 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:18476955; 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:NP806959.RAPimhFSoTWz0-PgzEnnEKbeaCMAytDC3Nx8dkUTu6CpM130_publicationInfo { this: dcterms:created "2015-08-25T14:45:49+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" . }