@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0
> .
@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/v3.0.0/void/
> .
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_head
{
this:
np:hasAssertion
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_assertion
;
np:hasProvenance
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_provenance
;
np:hasPublicationInfo
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_assertion
a
np:Assertion
.
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_provenance
a
np:Provenance
.
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_assertion
{
miriam-gene:339324
a
ncit:C16612
.
lld:C0027765
a
ncit:C7057
.
dgn-gda:DGNaf809f1b7b5db4a4b02dbeda6126d31a
sio:SIO_000628
miriam-gene:339324
,
lld:C0027765
;
a
sio:SIO_001121
.
}
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_provenance
{
dgn-np:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_assertion
dcterms:description
"[Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients.]. 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:9671729
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP985415.RAGmyZKg2jQitIFR60Gg8_zaNcBOp2hpD5D2jBUJ_86a0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:43+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}