@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:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_head { this: np:hasAssertion dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion; np:hasProvenance dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance; np:hasPublicationInfo dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_publicationInfo; a np:Nanopublication . dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion a np:Assertion . dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance a np:Provenance . dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion { miriam-gene:182 a ncit:C16612 . lld:C0022353 a ncit:C7057 . dgn-gda:DGN610c8060e743a350ffe1b83141620e25 sio:SIO_000628 miriam-gene:182, lld:C0022353; a sio:SIO_001121 . } dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_provenance { dgn-np:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_assertion dcterms:description "[Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes, and face.]. 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:10220506; 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:NP262079.RAN_aNcUj9LRjKkDA3oFdiPCytyKiyJa5K__3gD4dSY1Q130_publicationInfo { this: dcterms:created "2014-10-02T12:34:26+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" . }