@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:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_head { this: np:hasAssertion dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_assertion; np:hasProvenance dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_provenance; np:hasPublicationInfo dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_publicationInfo; a np:Nanopublication . dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_assertion a np:Assertion . dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_provenance a np:Provenance . dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_publicationInfo a np:PublicationInfo . } dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_assertion { miriam-gene:8487 a ncit:C16612 . lld:C2931876 a ncit:C7057 . dgn-gda:DGN93e45b3d5de7540c4e198befcf351839 sio:SIO_000628 miriam-gene:8487, lld:C2931876; a sio:SIO_001121 . } dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_provenance { dgn-np:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_assertion dcterms:description "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. 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:16618617; 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:NP350724.RAD0z5pmE2sgyUDQi9l5pjNL1HfaOnxWMxvMAunieQCtM130_publicationInfo { this: dcterms:created "2014-10-02T12:35:26+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" . }