@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1229415.RAc3ePrwB3mgF0bFF6fvZm42yyFNRuFfXKE5smHz1IXZ8
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/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
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}