@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_head
{
this:
np:hasAssertion
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_assertion
;
np:hasProvenance
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_provenance
;
np:hasPublicationInfo
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_assertion
a
np:Assertion
.
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_provenance
a
np:Provenance
.
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_assertion
{
miriam-gene:1593
a
ncit:C16612
.
lld:C0678236
a
ncit:C7057
.
dgn-gda:DGN5e659f636e41f3d2f8829af09015f384
sio:SIO_000628
miriam-gene:1593
,
lld:C0678236
;
a
sio:SIO_001121
.
}
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_provenance
{
dgn-np:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_assertion
dcterms:description
"[The three sterol 27-hydroxylase gene mutations account for all 10 CTX families and their presence may suggest the existence of positive selective forces that lead to an increased prevalence of this relatively rare disease in Jews from North Africa.]. 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:8014582
;
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:NP627304.RAoU2LYrJpjbnuGB0cgpHddbNPCyULE6luvDpA-Lt-__M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}