@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:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_head { this: np:hasAssertion dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_assertion; np:hasProvenance dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_provenance; np:hasPublicationInfo dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_publicationInfo; a np:Nanopublication . dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_assertion a np:Assertion . dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_provenance a np:Provenance . dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_assertion { miriam-gene:54658 a ncit:C16612 . lld:C0022610 a ncit:C7057 . dgn-gda:DGN395a208b519d12ec3b60b5610c72e527 sio:SIO_000628 miriam-gene:54658, lld:C0022610; a sio:SIO_001121 . } dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_provenance { dgn-np:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_assertion dcterms:description "[Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to mutations in the UGT1A1 gene, which can cause kernicterus early in life and can be even lethal when left untreated.]. 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:25315738; 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:NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8130_publicationInfo { this: dcterms:created "2016-05-13T12:51:03+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" . }