@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:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_head { this: np:hasAssertion dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_assertion; np:hasProvenance dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_provenance; np:hasPublicationInfo dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_publicationInfo; a np:Nanopublication . dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_assertion a np:Assertion . dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_provenance a np:Provenance . dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_publicationInfo a np:PublicationInfo . } dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_assertion { miriam-gene:5727 a ncit:C16612 . lld:C3811653 a ncit:C7057 . dgn-gda:DGN4a3cd17ddac857736db6d164d2711397 sio:SIO_000628 miriam-gene:5727, lld:C3811653; a sio:SIO_001121 . } dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_provenance { dgn-np:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_assertion dcterms:description "[Germline mutations of the human patched gene, PTCH, are responsible for the nevoid basal cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin cancers, internal cancers and severe developmental abnormalities.]. 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:10838143; 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:NP285509.RAmpBLvzfEJcuAMgQOYuS9X2zTmDSIoaFuuztP45-V4Go130_publicationInfo { this: dcterms:created "2016-05-13T12:43:55+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" . }